(used for variant description)
(last modified January 21, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_006715.3 in the MAN2C1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000015.9, covering MAN2C1 transcript NM_006715.3.
(upstream sequence)
. . . . g.5044
ggtagcgccaggggccttccggaaagaggagcgagagcccggcg c.-1
. . . . . . g.5104
ATGGCGGCTGCGCCGGCCTTGAAGCACTGGCGCACCACGCTGGAGCGGGTGGAGAAGTTC c.60
M A A A P A L K H W R T T L E R V E K F p.20
. . . . | 02 . . g.5448
GTGTCGCCGCTCTACTTTACCGACTGTAACCTCCGCGGCAG | GCTTTTTGGGGCCAGCTGC c.120
V S P L Y F T D C N L R G R | L F G A S C p.40
. . . . . . g.5508
CCTGTGGCTGTGCTCTCCAGCTTCCTGACGCCGGAGAGACTTCCCTACCAGGAGGCAGTC c.180
P V A V L S S F L T P E R L P Y Q E A V p.60
. . . . | 03. . g.6006
CAGCGGGACTTCCGCCCCGCGCAGGTCGGCGACAGCTTCGGACCCAC | ATGGTGGACCTGC c.240
Q R D F R P A Q V G D S F G P T | W W T C p.80
. . . . . . g.6066
TGGTTCCGGGTGGAGCTGACCATCCCAGAGGCATGGGTGGGCCAGGAAGTTCACCTTTGC c.300
W F R V E L T I P E A W V G Q E V H L C p.100
. . . . . | 04 . g.7044
TGGGAAAGTGATGGAGAAGGTCTGGTGTGGCGTGATGGAGAACCTGTCCAG | GGTTTAACC c.360
W E S D G E G L V W R D G E P V Q | G L T p.120
. . . . . . g.7104
AAAGAGGGTGAGAAGACCAGCTATGTCCTGACTGACAGGCTGGGGGAAAGAGACCCCCGA c.420
K E G E K T S Y V L T D R L G E R D P R p.140
| 05 . . . . . . g.9020
AG | CCTCACTCTCTATGTGGAAGTAGCCTGCAATGGGCTCCTGGGGGCCGGGAAGGGAAGC c.480
S | L T L Y V E V A C N G L L G A G K G S p.160
. . . . . . g.9080
ATGATTGCAGCCCCTGACCCTGAGAAGATGTTCCAGCTGAGCCGGGCTGAGCTAGCTGTG c.540
M I A A P D P E K M F Q L S R A E L A V p.180
. . . . . . g.9140
TTCCACCGGGATGTCCACATGCTCCTGGTGGATCTGGAGCTGCTGCTGGGCATAGCCAAG c.600
F H R D V H M L L V D L E L L L G I A K p.200
| 06 . . . . . . g.9499
| GGCCTCGGGAAGGACAACCAGCGCAGCTTCCAGGCCCTGTACACAGCCAATCAGATGGTG c.660
| G L G K D N Q R S F Q A L Y T A N Q M V p.220
. . . . . . g.9559
AACGTGTGTGACCCTGCCCAGCCCGAGACCTTCCCAGTGGCCCAGGCCCTGGCCTCCAGG c.720
N V C D P A Q P E T F P V A Q A L A S R p.240
. . . . . . g.9619
TTCTTTGGCCAACATGGGGGTGAAAGCCAACACACCATTCATGCCACAGGGCACTGCCAC c.780
F F G Q H G G E S Q H T I H A T G H C H p.260
. | 07 . . . . . g.10929
ATTGATACAG | CCTGGCTTTGGCCCTTCAAAGAGACTGTGAGGAAATGTGCCCGGAGCTGG c.840
I D T A | W L W P F K E T V R K C A R S W p.280
. . . . . | 08. g.11177
GTGACCGCCCTGCAGCTCATGGAGCGGAACCCTGAGTTCATCTTTGCCTGCTCCCAG | GCG c.900
V T A L Q L M E R N P E F I F A C S Q | A p.300
. . . . . . g.11237
CAGCAGCTGGAATGGGTGAAGAGCCGCTACCCTGGCCTGTACTCCCGCATCCAGGAGTTT c.960
Q Q L E W V K S R Y P G L Y S R I Q E F p.320
. . . . | 09 . g.11692
GCGTGCCGTGGGCAGTTTGTGCCTGTGGGGGGCACCTGGGTGGAGATG | GATGGGAACCTG c.1020
A C R G Q F V P V G G T W V E M | D G N L p.340
. . . . . . g.11752
CCCAGTGGAGAGGCCATGGTGAGGCAGTTTTTGCAGGGCCAGAACTTCTTTCTGCAGGAG c.1080
P S G E A M V R Q F L Q G Q N F F L Q E p.360
. . | 10 . . . . g.11946
TTTGGGAAGATGTGCTCTGAG | TTCTGGCTGCCGGACACCTTTGGCTACTCAGCACAGCTC c.1140
F G K M C S E | F W L P D T F G Y S A Q L p.380
. . . . . . g.12006
CCCCAGATCATGCACGGCTGTGGCATCAGGCGCTTTCTCACCCAGAAATTGAGCTGGAAT c.1200
P Q I M H G C G I R R F L T Q K L S W N p.400
. | 11 . . . . g.12288
TTGGTGAACTCCTTCCCA | CACCATACATTTTTCTGGGAGGGCCTGGATGGCTCCCGTGTA c.1260
L V N S F P | H H T F F W E G L D G S R V p.420
. . . . . | 12 . g.12442
CTGGTCCACTTCCCACCTGGCGACTCCTATGGGATGCAGGGCAGCGTGGAGGAG | GTGCTG c.1320
L V H F P P G D S Y G M Q G S V E E | V L p.440
. . . . . . g.12502
AAGACCGTGGCCAACAACCGGGACAAGGGGCGGGCCAACCACAGTGCCTTCCTCTTTGGC c.1380
K T V A N N R D K G R A N H S A F L F G p.460
. . . . . . g.12562
TTTGGGGATGGGGGTGGTGGCCCCACCCAGACCATGCTGGACCGCCTGAAGCGCCTGAGC c.1440
F G D G G G G P T Q T M L D R L K R L S p.480
. . | 13 . . . . g.12979
AATACGGATGGGCTGCCCAG | GGTGCAGCTATCTTCTCCAAGACAGCTCTTCTCAGCACTG c.1500
N T D G L P R | V Q L S S P R Q L F S A L p.500
. . . . . . g.13039
GAGAGTGACTCAGAGCAGCTGTGCACGTGGGTTGGGGAGCTCTTCTTGGAGCTGCACAAT c.1560
E S D S E Q L C T W V G E L F L E L H N p.520
. . | 14 . . . . g.13452
GGCACATACACCACCCATGCCCAG | ATCAAGAAGGGGAACCGGGAATGTGAGCGGATCCTG c.1620
G T Y T T H A Q | I K K G N R E C E R I L p.540
. . . . . . g.13512
CACGACGTGGAGCTGCTCAGTAGCCTGGCCCTGGCCCGCAGTGCCCAGTTCCTATACCCA c.1680
H D V E L L S S L A L A R S A Q F L Y P p.560
. . | 15 . . . . g.13673
GCAGCCCAGCTGCAGCACCTCTGGAG | GCTCCTTCTTCTGAACCAGTTCCATGATGTGGTG c.1740
A A Q L Q H L W R | L L L L N Q F H D V V p.580
. . . . . | 16 . g.13860
ACTGGAAGCTGCATCCAGATGGTGGCAGAGGAAGCCATGTGCCATTATGAAG | ACATCCGT c.1800
T G S C I Q M V A E E A M C H Y E D | I R p.600
. . . . . . g.13920
TCCCATGGCAATACACTGCTCAGCGCTGCAGCCGCAGCCCTGTGTGCTGGGGAGCCAGGT c.1860
S H G N T L L S A A A A A L C A G E P G p.620
. . . . . . g.13980
CCTGAGGGCCTCCTCATCGTCAACACACTGCCCTGGAAGCGGATCGAAGTGATGGCCCTG c.1920
P E G L L I V N T L P W K R I E V M A L p.640
. . | 17 . . . g.14234
CCCAAACCGGGCGGGGCCCACAGCCTAG | CCCTGGTGACAGTGCCCAGCATGGGCTATGCT c.1980
P K P G G A H S L A | L V T V P S M G Y A p.660
. . . . . . g.14294
CCTGTTCCTCCCCCCACCTCACTGCAGCCCCTGCTGCCCCAGCAGCCTGTGTTCGTAGTG c.2040
P V P P P T S L Q P L L P Q Q P V F V V p.680
| 18 . . . . . . g.14528
CAAGAG | ACTGATGGCTCCGTGACTCTGGACAATGGCATCATCCGAGTGAAGCTGGACCCA c.2100
Q E | T D G S V T L D N G I I R V K L D P p.700
. . . . | 19 . . g.14838
ACTGGTCGCCTGACGTCCTTGGTCCTGGTGGCCTCTGGCAG | GGAGGCCATTGCTGAGGGC c.2160
T G R L T S L V L V A S G R | E A I A E G p.720
. . . . . . g.14898
GCCGTGGGGAACCAGTTTGTGCTATTTGATGATGTCCCCTTGTACTGGGATGCATGGGAC c.2220
A V G N Q F V L F D D V P L Y W D A W D p.740
. . | 20 . . . . g.15043
GTCATGGACTACCACCTGGAGACACG | GAAGCCTGTGCTGGGCCAGGCAGGGACCCTGGCA c.2280
V M D Y H L E T R | K P V L G Q A G T L A p.760
. . . . . . g.15103
GTGGGCACCGAGGGCGGCCTGCGGGGCAGCGCCTGGTTCTTGCTACAGATCAGCCCCAAC c.2340
V G T E G G L R G S A W F L L Q I S P N p.780
. . . . . . g.15163
AGTCGGCTTAGCCAGGAGGTTGTGCTGGACGTTGGCTGCCCCTATGTCCGCTTCCACACC c.2400
S R L S Q E V V L D V G C P Y V R F H T p.800
| 21 . . . . . . g.15340
GAG | GTACACTGGCATGAGGCCCACAAGTTCCTGAAGGTGGAGTTCCCTGCTCGCGTGCGG c.2460
E | V H W H E A H K F L K V E F P A R V R p.820
. . . . . . g.15400
AGTTCCCAGGCCACCTATGAGATCCAGTTTGGGCACCTGCAGCGACCTACCCACTACAAT c.2520
S S Q A T Y E I Q F G H L Q R P T H Y N p.840
. . | 22. . . . g.16758
ACCTCTTGGGACTGGGCTCGATTTGAG | GTGTGGGCCCATCGCTGGATGGATCTGTCAGAA c.2580
T S W D W A R F E | V W A H R W M D L S E p.860
. . . . . . g.16818
CACGGCTTTGGGCTGGCCCTGCTCAACGACTGCAAGTATGGCGCGTCAGTGCGAGGCAGC c.2640
H G F G L A L L N D C K Y G A S V R G S p.880
. | 23. . . . . g.16985
ATCCTCAGCCTCTCGCT | CTTGCGGGCGCCTAAAGCCCCGGACGCTACTGCTGACACGGGG c.2700
I L S L S L | L R A P K A P D A T A D T G p.900
. . . | 24. . . g.17201
CGCCACGAGTTCACCTATGCACTGATGCCGCACAAGG | GCTCTTTCCAGGATGCTGGCGTT c.2760
R H E F T Y A L M P H K G | S F Q D A G V p.920
. . . . . . g.17261
ATCCAAGCTGCCTACAGCCTAAACTTCCCCCTGTTGGCTCTGCCAGCCCCCAGCCCAGCG c.2820
I Q A A Y S L N F P L L A L P A P S P A p.940
. . . . . . g.17321
CCCGCCACCTCCTGGAGTGCGTTTTCCGTGTCTTCACCCGCGGTCGTATTGGAGACCGTC c.2880
P A T S W S A F S V S S P A V V L E T V p.960
| 25 . . . . . . g.17462
AAGCAG | GCGGAGAGCAGCCCCCAGCGCCGCTCGCTGGTCCTGAGGCTGTATGAGGCCCAC c.2940
K Q | A E S S P Q R R S L V L R L Y E A H p.980
. . . . . | 26 . g.17599
GGCAGCCACGTGGACTGCTGGCTGCACTTGTCGCTGCCGGTTCAGGAGGCCATCCT | CTGC c.3000
G S H V D C W L H L S L P V Q E A I L | C p.1000
. . . . . . g.17659
GATCTCTTGGAGCGACCAGACCCTGCTGGCCACTTGACCCTTCGGGACAACCGCCTGAAG c.3060
D L L E R P D P A G H L T L R D N R L K p.1020
. . . . . . g.17719
CTCACCTTTTCTCCCTTCCAAGTGCTGTCCCTGTTGCTCGTGCTTCAGCCTCCGCCACAC c.3120
L T F S P F Q V L S L L L V L Q P P P H p.1040
g.17722
TGA c.3123
X p.1040
. . . . . . g.17782
gtccctggggctggggttttgtttgtagaaggctctggggactcctaatttctgcttccc c.*60
. . . . . g.17836
cagcctaaagcagggatcagtcttttcttgtggaataaatccttggatcgggaa c.*114
(downstream sequence)
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