(used for variant description)
(last modified November 18, 2025)
This file was created to facilitate the description of sequence variants on transcript NM_000528.3 in the MAN2B1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000019.9, covering MAN2B1 transcript NM_000528.3.
(upstream sequence)
. g.5016
cccggccgggtctggg c.-61
. . . . . . g.5076
ggcggggcgtttgcccggcctttccagggccggggaaccccaggaggaagctgctgagcc c.-1
. . . . . . g.5136
ATGGGCGCCTACGCGCGGGCTTCGGGGGTCTGCGCTCGCGGCTGCCTGGACTCAGCAGGC c.60
M G A Y A R A S G V C A R G C L D S A G p.20
. . . . . . g.5196
CCCTGGACCATGTCCCGCGCCCTGCGGCCACCGCTCCCGCCTCTCTGCTTTTTCCTTTTG c.120
P W T M S R A L R P P L P P L C F F L L p.40
. . . | 02 . . g.5993
TTGCTGGCGGCTGCCGGTGCTCGGGCCGGGGGATACGAG | ACATGCCCCACAGTGCAGCCG c.180
L L A A A G A R A G G Y E | T C P T V Q P p.60
. . . . . . g.6053
AACATGCTGAACGTGCACCTGCTGCCTCACACACATGATGACGTGGGCTGGCTCAAAACC c.240
N M L N V H L L P H T H D D V G W L K T p.80
. . | 03 . . . . g.6290
GTGGACCAGTACTTTTATGGAA | TCAAGAATGACATCCAGCACGCCGGTGTGCAGTACATC c.300
V D Q Y F Y G I | K N D I Q H A G V Q Y I p.100
. . . . . . g.6350
CTGGACTCGGTCATCTCTGCCTTGCTGGCAGATCCCACCCGTCGCTTCATTTACGTGGAG c.360
L D S V I S A L L A D P T R R F I Y V E p.120
. . . . . . g.6410
ATTGCCTTCTTCTCCCGTTGGTGGCACCAGCAGACAAATGCCACACAGGAAGTCGTGCGA c.420
I A F F S R W W H Q Q T N A T Q E V V R p.140
. | 04 . . . . . g.6836
GACCTTGTGCGCCAGG | GGCGCCTGGAGTTCGCCAATGGTGGCTGGGTGATGAACGATGAG c.480
D L V R Q G | R L E F A N G G W V M N D E p.160
. . . . . . g.6896
GCAGCCACCCACTACGGTGCCATCGTGGACCAGATGACACTTGGGCTGCGCTTTCTGGAG c.540
A A T H Y G A I V D Q M T L G L R F L E p.180
. . . . . . g.6956
GACACATTTGGCAATGATGGGCGACCCCGTGTGGCCTGGCACATTGACCCCTTCGGCCAC c.600
D T F G N D G R P R V A W H I D P F G H p.200
. . . | 05 . . . g.7972
TCTCGGGAGCAGGCCTCGCTGTTTGCGCAG | ATGGGCTTCGACGGCTTCTTCTTTGGGCGC c.660
S R E Q A S L F A Q | M G F D G F F F G R p.220
. . . . . . g.8032
CTTGATTATCAAGATAAGTGGGTACGGATGCAGAAGCTGGAGATGGAGCAGGTGTGGCGG c.720
L D Y Q D K W V R M Q K L E M E Q V W R p.240
. . . . | 06 . . g.8332
GCCAGCACCAGCCTGAAGCCCCCGACCGCGGACCTCTTCACTG | GTGTGCTTCCCAATGGT c.780
A S T S L K P P T A D L F T G | V L P N G p.260
. . . . . . g.8392
TACAACCCGCCAAGGAATCTGTGCTGGGATGTGCTGTGTGTCGATCAGCCGCTGGTGGAG c.840
Y N P P R N L C W D V L C V D Q P L V E p.280
. . . . . . g.8452
GACCCTCGCAGCCCCGAGTACAACGCCAAGGAGCTGGTCGATTACTTCCTAAATGTGGCC c.900
D P R S P E Y N A K E L V D Y F L N V A p.300
| 07 . . . . . g.10452
ACTGCCCAG | GGCCGGTATTACCGCACCAACCACACTGTGATGACCATGGGCTCGGACTTC c.960
T A Q | G R Y Y R T N H T V M T M G S D F p.320
. . . . . . g.10512
CAATATGAGAATGCCAACATGTGGTTCAAGAACCTTGACAAGCTCATCCGGCTGGTAAAT c.1020
Q Y E N A N M W F K N L D K L I R L V N p.340
| 08 . . . . . . g.13321
GCGCAG | CAGGCAAAAGGAAGCAGTGTCCATGTTCTCTACTCCACCCCCGCTTGTTACCTC c.1080
A Q | Q A K G S S V H V L Y S T P A C Y L p.360
. . | 09 . . . g.13464
TGGGAGCTGAACAAGGCCAACCTCACCTG | GTCAGTGAAACATGACGACTTCTTCCCTTAC c.1140
W E L N K A N L T W | S V K H D D F F P Y p.380
. . . . . . g.13524
GCGGATGGCCCCCACCAGTTCTGGACCGGTTACTTTTCCAGTCGGCCGGCCCTCAAACGC c.1200
A D G P H Q F W T G Y F S S R P A L K R p.400
. . . | 10 . . . g.13666
TACGAGCGCCTCAGCTACAACTTCCTGCAG | GTGTGCAACCAGCTGGAGGCGCTGGTGGGC c.1260
Y E R L S Y N F L Q | V C N Q L E A L V G p.420
. . . . | 11 . g.14233
CTGGCGGCCAACGTGGGACCCTATGGCTCCGGAGACAGTGCACCCCTCA | ATGAGGCGATG c.1320
L A A N V G P Y G S G D S A P L N | E A M p.440
. . . . . . g.14293
GCTGTGCTCCAGCATCACGACGCCGTCAGCGGCACCTCCCGCCAGCACGTGGCCAACGAC c.1380
A V L Q H H D A V S G T S R Q H V A N D p.460
. . . | 12 . . g.14742
TACGCGCGCCAGCTTGCGGCAGGCTGGGGGCCTTGCGAG | GTTCTTCTGAGCAACGCGCTG c.1440
Y A R Q L A A G W G P C E | V L L S N A L p.480
. . . . . . g.14802
GCGCGGCTCAGAGGCTTCAAAGATCACTTCACCTTTTGCCAACAGCTAAACATCAGCATC c.1500
A R L R G F K D H F T F C Q Q L N I S I p.500
. . | 13. . . . g.15123
TGCCCGCTCAGCCAGACGGCGGCGCGC | TTCCAGGTCATCGTTTATAATCCCCTGGGGCGG c.1560
C P L S Q T A A R | F Q V I V Y N P L G R p.520
. . . . . . g.15183
AAGGTGAATTGGATGGTACGGCTGCCGGTCAGCGAAGGCGTTTTCGTTGTGAAGGACCCC c.1620
K V N W M V R L P V S E G V F V V K D P p.540
. . | 14 . . . . g.15934
AATGGCAGGACAGTGCCCAGCGAT | GTGGTAATATTTCCCAGCTCAGACAGCCAGGCGCAC c.1680
N G R T V P S D | V V I F P S S D S Q A H p.560
. . . . . . g.15994
CCTCCGGAGCTGCTGTTCTCAGCCTCACTGCCCGCCCTGGGCTTCAGCACCTATTCAGTA c.1740
P P E L L F S A S L P A L G F S T Y S V p.580
. . . . . . g.16054
GCCCAGGTGCCTCGCTGGAAGCCCCAGGCCCGCGCACCACAGCCCATCCCCAGAAGATCC c.1800
A Q V P R W K P Q A R A P Q P I P R R S p.600
. . . | 15 . . . g.19347
TGGTCCCCTGCTTTAACCATCGAAAATGAG | CACATCCGGGCAACGTTTGATCCTGACACA c.1860
W S P A L T I E N E | H I R A T F D P D T p.620
. . . . . . g.19407
GGGCTGTTGATGGAGATTATGAACATGAATCAGCAACTCCTGCTGCCTGTTCGCCAGACC c.1920
G L L M E I M N M N Q Q L L L P V R Q T p.640
| 16 . . . . . g.19559
TTCTTCTG | GTACAACGCCAGTATAGGTGACAACGAAAGTGACCAGGCCTCAGGTGCCTAC c.1980
F F W | Y N A S I G D N E S D Q A S G A Y p.660
. . . . . . g.19619
ATCTTCAGACCCAACCAACAGAAACCGCTGCCTGTGAGCCGCTGGGCTCAGATCCACCTG c.2040
I F R P N Q Q K P L P V S R W A Q I H L p.680
| 17 . . . . . . g.21609
GTGAAG | ACACCCTTGGTGCAGGAGGTGCACCAGAACTTCTCAGCTTGGTGTTCCCAGGTG c.2100
V K | T P L V Q E V H Q N F S A W C S Q V p.700
. . . . . . g.21669
GTTCGCCTGTACCCAGGACAGCGGCACCTGGAGCTAGAGTGGTCGGTGGGGCCGATACCT c.2160
V R L Y P G Q R H L E L E W S V G P I P p.720
| 18 . . . . . . g.21818
GTGGG | CGACACCTGGGGGAAGGAGGTCATCAGCCGTTTTGACACACCGCTGGAGACAAAG c.2220
V G | D T W G K E V I S R F D T P L E T K p.740
. . . . | 19. . g.22362
GGACGCTTCTACACAGACAGCAATGGCCGGGAGATCCTGGAGAGGAG | GCGGGATTATCGA c.2280
G R F Y T D S N G R E I L E R R | R D Y R p.760
. . . . . . g.22422
CCCACCTGGAAACTGAACCAGACGGAGCCCGTGGCAGGAAACTACTATCCAGTCAACACC c.2340
P T W K L N Q T E P V A G N Y Y P V N T p.780
. | 20 . . . . . g.22606
CGGATTTACATCACG | GATGGAAACATGCAGCTGACTGTGCTGACTGACCGCTCCCAGGGG c.2400
R I Y I T | D G N M Q L T V L T D R S Q G p.800
. . . | 21 . . . g.23399
GGCAGCAGCCTGAGAGATGGCTCGCTGGAGCTCATG | GTGCACCGAAGGCTGCTGAAGGAC c.2460
G S S L R D G S L E L M | V H R R L L K D p.820
. . . . . . g.23459
GATGGACGCGGAGTATCGGAGCCACTAATGGAGAACGGGTCGGGGGCGTGGGTGCGAGGG c.2520
D G R G V S E P L M E N G S G A W V R G p.840
. . . . . . g.23519
CGCCACCTGGTGCTGCTGGACACAGCCCAGGCTGCAGCCGCCGGACACCGGCTCCTGGCG c.2580
R H L V L L D T A Q A A A A G H R L L A p.860
. . . . . . g.23579
GAGCAGGAGGTCCTGGCCCCTCAGGTGGTGCTGGCCCCGGGTGGCGGCGCCGCCTACAAT c.2640
E Q E V L A P Q V V L A P G G G A A Y N p.880
. . | 22 . . . . g.24215
CTCGGGGCTCCTCCGCGCACGCAG | TTCTCAGGGCTGCGCAGGGACCTGCCGCCCTCGGTG c.2700
L G A P P R T Q | F S G L R R D L P P S V p.900
. . . . . . g.24275
CACCTGCTCACGCTGGCCAGCTGGGGCCCCGAAATGGTGCTGCTGCGCTTGGAGCACCAG c.2760
H L L T L A S W G P E M V L L R L E H Q p.920
. . . . . . g.24335
TTTGCCGTAGGAGAGGATTCCGGACGTAACCTGAGCGCCCCCGTTACCTTGAACTTGAGG c.2820
F A V G E D S G R N L S A P V T L N L R p.940
| 23 . . . . . . g.24502
| GACCTGTTCTCCACCTTCACCATCACCCGCCTGCAGGAGACCACGCTGGTGGCCAACCAG c.2880
| D L F S T F T I T R L Q E T T L V A N Q p.960
. . . . | 24 . . g.25062
CTCCGCGAGGCAGCCTCCAGGCTCAAGTGGACAACAAACACAG | GCCCCACACCCCACCAA c.2940
L R E A A S R L K W T T N T G | P T P H Q p.980
. . . . . . g.25122
ACTCCGTACCAGCTGGACCCGGCCAACATCACGCTGGAACCCATGGAAATCCGCACTTTC c.3000
T P Y Q L D P A N I T L E P M E I R T F p.1000
. . . g.25158
CTGGCCTCAGTTCAATGGAAGGAGGTGGATGGTTAG c.3036
L A S V Q W K E V D G X p.1011
. . . . . . g.25218
gtctgctgggatgggccctccaagcccaagcctcctgctccgggggcagaccagactctg c.*60
. . . . . g.25270
actctcctcttggggctgctgccattaaaacgctactactaagactcaggtc c.*112
(downstream sequence)
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