(used for variant description)
(last modified October 23, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_004366.5 in the CLCN2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_016422.1, covering CLCN2 transcript NM_004366.5.
(upstream sequence)
. . . . . g.5004
gacgcgagcgggaggctgcgccagcggcgcccgccgggggcccgccgcactc c.-121
. . . . . . g.5064
tgctctcggcctcccgggctgcggggacgggacggctgccggcgcggactttgcgggccg c.-61
. . . . . . g.5124
ggagccgagtccaggacagagccggaaccgccgagggaggcgagagggcagtgcgcggag c.-1
. . . . . . g.5184
ATGGCGGCCGCGGCGGCGGAGGAAGGGATGGAGCCACGGGCGCTGCAGTACGAGCAGACC c.60
M A A A A A E E G M E P R A L Q Y E Q T p.20
| 02 . . . . . . g.7529
CTG | ATGTATGGCCGGTACACTCAGGACCTTGGGGCCTTTGCCAAAGAGGAAGCTGCTCGG c.120
L | M Y G R Y T Q D L G A F A K E E A A R p.40
. . . . . . g.7589
ATTCGCCTGGGAGGGCCTGAACCCTGGAAAGGTCCCCCTTCCTCTCGGGCTGCCCCAGAG c.180
I R L G G P E P W K G P P S S R A A P E p.60
. . . . | 03 . . g.7810
CTCTTGGAATATGGACGGAGCCGTTGCGCCCGATGCCGCG | TCTGTTCTGTCCGCTGCCAC c.240
L L E Y G R S R C A R C R V | C S V R C H p.80
. . . . . . g.7870
AAGTTCCTAGTATCCAGGGTTGGTGAAGATTGGATCTTCCTGGTCCTGCTGGGGCTTCTC c.300
K F L V S R V G E D W I F L V L L G L L p.100
. . . . . | 04 . g.8301
ATGGCATTGGTCAGCTGGGTCATGGACTATGCCATTGCTGCCTGTCTGCAAG | CCCAGCAG c.360
M A L V S W V M D Y A I A A C L Q A | Q Q p.120
. . . . . . g.8361
TGGATGTCCCGGGGCTTGAACACCAGCATCTTGCTCCAGTACCTGGCCTGGGTCACCTAC c.420
W M S R G L N T S I L L Q Y L A W V T Y p.140
. . . . . . g.8421
CCTGTTGTCCTCATCACTTTCTCAGCCGGATTCACACAGATCCTGGCCCCTCAGGCTGTC c.480
P V V L I T F S A G F T Q I L A P Q A V p.160
| 05 . . . . . . g.8567
G | GCTCTGGCATCCCTGAGATGAAGACCATCTTGCGGGGAGTGGTGCTGAAAGAATACCTC c.540
G | S G I P E M K T I L R G V V L K E Y L p.180
. . . . . . g.8627
ACACTCAAGACCTTTATAGCTAAGGTCATTGGGCTGACCTGCGCCCTAGGCAGCGGGATG c.600
T L K T F I A K V I G L T C A L G S G M p.200
. | 06 . . . . . g.8792
CCGCTTGGCAAAGAG | GGCCCTTTTGTGCATATCGCAAGCATGTGTGCTGCCCTTCTCAGC c.660
P L G K E | G P F V H I A S M C A A L L S p.220
. . . | 07 . . . g.8932
AAGTTCCTCTCCCTCTTTGGGGGTATCTATGAG | AATGAATCCCGGAACACAGAGATGCTG c.720
K F L S L F G G I Y E | N E S R N T E M L p.240
. . . . . | 08 . g.9124
GCTGCCGCCTGTGCCGTGGGGGTGGGCTGCTGCTTCGCGGCACCTATTGGAG | GCGTCCTC c.780
A A A C A V G V G C C F A A P I G G | V L p.260
. . . . . . g.9184
TTCAGCATCGAGGTCACCTCCACCTTCTTTGCAGTGCGGAACTACTGGCGGGGCTTCTTC c.840
F S I E V T S T F F A V R N Y W R G F F p.280
. . . . . | 09 g.9339
GCTGCCACCTTCAGTGCCTTCATCTTCCGGGTCTTGGCAGTCTGGAACCGGGATGAAG | AG c.900
A A T F S A F I F R V L A V W N R D E E | p.300
. . . . . . g.9399
ACTATTACAGCCCTCTTCAAAACCCGATTCCGGCTCGACTTCCCCTTTGACCTGCAGGAG c.960
T I T A L F K T R F R L D F P F D L Q E p.320
. . | 10 . . . . g.9546
CTGCCAGCCTTTGCTGTCATTGG | TATTGCTAGTGGCTTCGGTGGAGCCCTCTTTGTCTAC c.1020
L P A F A V I G | I A S G F G G A L F V Y p.340
. . . . . . g.9606
CTGAACCGGAAGATTGTCCAGGTGATGCGGAAGCAGAAAACCATCAATCGCTTCCTCATG c.1080
L N R K I V Q V M R K Q K T I N R F L M p.360
| 11 . . . . . . g.10880
AGGAA | ACGCCTGCTCTTCCCGGCTCTGGTGACCCTGCTCATCTCCACGCTGACCTTCCCC c.1140
R K | R L L F P A L V T L L I S T L T F P p.380
. . . | 12 . . . g.11104
CCTGGCTTTGGACAGTTCATGGCTGGACAG | CTCTCACAGAAAGAGACGCTGGTCACCCTG c.1200
P G F G Q F M A G Q | L S Q K E T L V T L p.400
. . . . . . g.11164
TTTGACAATCGGACGTGGGTCCGCCAGGGCCTGGTGGAGGAGCTAGAACCACCCAGCACC c.1260
F D N R T W V R Q G L V E E L E P P S T p.420
. . . . . . g.11224
TCACAGGCCTGGAACCCACCACGTGCCAACGTCTTCCTCACCCTGGTCATCTTCATTCTC c.1320
S Q A W N P P R A N V F L T L V I F I L p.440
| 13 . . . . . . g.11684
ATGAAG | TTCTGGATGTCTGCACTGGCCACCACCATCCCAGTTCCCTGTGGGGCCTTCATG c.1380
M K | F W M S A L A T T I P V P C G A F M p.460
. | 14 . . . . . g.11989
CCTGTCTTTGTCATTG | GAGCAGCATTTGGGCGTCTGGTGGGTGAAAGCATGGCTGCCTGG c.1440
P V F V I G | A A F G R L V G E S M A A W p.480
. . . . . . g.12049
TTCCCAGATGGAATTCATACGGACAGCAGCACCTACCGGATTGTGCCTGGGGGCTACGCT c.1500
F P D G I H T D S S T Y R I V P G G Y A p.500
| 15. . . . . . g.12342
GTGGTCG | GGGCAGCTGCGCTGGCAGGAGCGGTGACACACACAGTGTCCACGGCTGTGATC c.1560
V V G | A A A L A G A V T H T V S T A V I p.520
. . . . . . g.12402
GTGTTCGAGCTCACAGGCCAGATTGCCCACATCCTGCCTGTCATGATCGCCGTCATCCTG c.1620
V F E L T G Q I A H I L P V M I A V I L p.540
. . . . . . g.12462
GCCAACGCTGTCGCCCAGAGTCTGCAGCCCTCCCTCTATGACAGCATCATCCGAATCAAG c.1680
A N A V A Q S L Q P S L Y D S I I R I K p.560
. . . . | 16 . . g.12827
AAACTGCCCTACCTGCCTGAGCTCGGCTGGGGCCGCCACCA | GCAGTACCGGGTGCGTGTG c.1740
K L P Y L P E L G W G R H Q | Q Y R V R V p.580
. . . . . . g.12887
GAGGACATCATGGTGCGGGATGTTCCCCATGTGGCCCTCAGCTGCACCTTCCGGGACCTG c.1800
E D I M V R D V P H V A L S C T F R D L p.600
. . . . . | 17 . g.13186
CGTTTGGCACTGCACAGGACCAAGGGCCGAATGCTGGCCCTAGTGGAGTCCCCTG | AGTCC c.1860
R L A L H R T K G R M L A L V E S P E | S p.620
. . . . . . g.13246
ATGATTCTGCTGGGCTCCATCGAGCGTTCACAGGTGGTGGCATTGTTGGGGGCCCAGCTG c.1920
M I L L G S I E R S Q V V A L L G A Q L p.640
. . . . . . g.13306
AGCCCAGCCCGCCGGCGGCAGCACATGCAGGAGCGCAGAGCCACCCAGACCTCTCCACTA c.1980
S P A R R R Q H M Q E R R A T Q T S P L p.660
. . . . | 18 . g.13468
TCTGATCAGGAGGGTCCCCCTACCCCTGAGGCTTCTGTCTGCTTCCAG | GTGAACACAGAA c.2040
S D Q E G P P T P E A S V C F Q | V N T E p.680
. . . . . . g.13528
GACTCAGCCTTCCCAGCAGCCCGGGGGGAGACCCACAAGCCCCTAAAGCCTGCACTCAAG c.2100
D S A F P A A R G E T H K P L K P A L K p.700
. . . . | 19 . . g.13810
AGGGGGCCCAGTGTCACCAGGAACCTCGGAGAGAGTCCCACAG | GGAGCGCAGAGTCGGCA c.2160
R G P S V T R N L G E S P T G | S A E S A p.720
. . . . . | 20. g.14110
GGCATCGCCCTCCGGAGCCTCTTCTGTGGCAGTCCACCCCCTGAGGCTGCTTCGGAG | AAG c.2220
G I A L R S L F C G S P P P E A A S E | K p.740
. . . . . | 21 . g.14281
TTGGAATCCTGTGAGAAGCGCAAGCTGAAGCGTGTCCGAATCTCCCTGGCA | AGTGACGCG c.2280
L E S C E K R K L K R V R I S L A | S D A p.760
. . . | 22 . . . g.14516
GACCTGGAAGGCGAGATGAGCCCTGAAGAG | ATTCTGGAGTGGGAGGAGCAGCAACTAGAT c.2340
D L E G E M S P E E | I L E W E E Q Q L D p.780
. . . . . . g.14576
GAACCTGTCAACTTCAGTGACTGCAAAATTGATCCTGCTCCCTTCCAGCTGGTGGAGCGG c.2400
E P V N F S D C K I D P A P F Q L V E R p.800
. | 23 . . . . . g.19627
ACCTCTTTGCACAAG | ACTCACACTATCTTCTCACTGCTGGGAGTGGACCATGCTTATGTC c.2460
T S L H K | T H T I F S L L G V D H A Y V p.820
. . . . | 24 . . g.19821
ACCAGTATTGGCAGACTCATTGGAATCGTTACTCTAAAGGAG | CTCCGGAAGGCCATCGAG c.2520
T S I G R L I G I V T L K E | L R K A I E p.840
. . . . . . g.19881
GGCTCTGTCACAGCACAGGGTGTGAAAGTCCGGCCGCCCCTCGCCAGCTTCCGAGACAGT c.2580
G S V T A Q G V K V R P P L A S F R D S p.860
. . . . . . g.19941
GCCACCAGCAGCAGTGACACGGAGACCACTGAGGTGCATGCACTCTGGGGGCCCCACTCC c.2640
A T S S S D T E T T E V H A L W G P H S p.880
. . . . . g.19998
CGTCATGGCCTCCCCCGGGAGGGCAGCCCTTCCGACAGCGACGACAAATGCCAATGA c.2697
R H G L P R E G S P S D S D D K C Q X p.898
. . . . . . g.20058
gcccctcgtgggtggcctaggatggtgctagccatgcccgtcagcccagaatgtgcatct c.*60
. . . . . . g.20118
ttcattccttctgccttcggaaggcaggaggcagctacagctggaggctgcaccccagcc c.*120
. . . . . . g.20178
ccctccagacctggggtgccagcttctcccagttcatcctacctggaatctgacccacta c.*180
. . . . . . g.20238
cccacctgcaacaagtcttccagaggcaggaagataggccctgccctggcaggatgggtt c.*240
. . . . . . g.20298
ggggtcacttgacccctgctccccctttgaggggaaaggggtggaactaagatgggttta c.*300
. . . . . . g.20358
taactggaacctccaatgaccagatgtatatagagatttacaaagatttttatattaatt c.*360
. . . . . . g.20418
taataaaacaaattcttaaatagaacaaaataaacacctaatgagccacttatatataga c.*420
g.20419
a c.*421
(downstream sequence)
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