(used for variant description)
(last modified October 14, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_020547.2 in the AMHR2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_015981.1, covering AMHR2 transcript NM_020547.2.
(upstream sequence)
. . g.5020
gtatctgaagaaagatttgg c.-61
. . . . . . g.5080
ccaggggcagctgtgctggcttatgctcttctccttctgctgctgccatcctccagcaag c.-1
. . . . | 02 . g.5444
ATGCTAGGGTCTTTGGGGCTTTGGGCATTACTTCCCACAGCTGTGGAAG | CACCCCCAAAC c.60
M L G S L G L W A L L P T A V E A | P P N p.20
. . . . . . g.5504
AGGCGAACCTGTGTGTTCTTTGAGGCCCCTGGAGTGCGGGGAAGCACAAAGACACTGGGA c.120
R R T C V F F E A P G V R G S T K T L G p.40
. . . . . . g.5564
GAGCTGCTAGATACAGGCACAGAGCTCCCCAGAGCTATCCGCTGCCTCTACAGCCGCTGC c.180
E L L D T G T E L P R A I R C L Y S R C p.60
. . . . . | 03 . g.5862
TGCTTTGGGATCTGGAACCTGACCCAAGACCGGGCACAGGTGGAAATGCAAG | GATGCCGA c.240
C F G I W N L T Q D R A Q V E M Q G | C R p.80
. . . . . . g.5922
GACAGTGATGAGCCAGGCTGTGAGTCCCTCCACTGTGACCCAAGTCCCCGAGCCCACCCC c.300
D S D E P G C E S L H C D P S P R A H P p.100
. . . . . . g.5982
AGCCCTGGCTCCACTCTCTTCACCTGCTCCTGTGGCACTGACTTCTGCAATGCCAATTAC c.360
S P G S T L F T C S C G T D F C N A N Y p.120
. . . . . . g.6042
AGCCATCTGCCTCCTCCAGGGAGCCCTGGGACTCCTGGCTCCCAGGGTCCCCAGGCTGCC c.420
S H L P P P G S P G T P G S Q G P Q A A p.140
| 04 . . . . . . g.6366
CCAG | GTGAGTCCATCTGGATGGCACTGGTGCTGCTGGGGCTGTTCCTCCTCCTCCTGCTG c.480
P G | E S I W M A L V L L G L F L L L L L p.160
. . | 05 . . . . g.6638
CTGCTGGGCAGCATCATCTTGG | CCCTGCTACAGCGAAAGAACTACAGAGTGCGAGGTGAG c.540
L L G S I I L A | L L Q R K N Y R V R G E p.180
. . . . . . g.6698
CCAGTGCCAGAGCCAAGGCCAGACTCAGGCAGGGACTGGAGTGTGGAGCTGCAGGAGCTG c.600
P V P E P R P D S G R D W S V E L Q E L p.200
. . | 06 . . . . g.6873
CCTGAGCTGTGTTTCTCCCAG | GTAATCCGGGAAGGAGGTCATGCAGTGGTTTGGGCCGGG c.660
P E L C F S Q | V I R E G G H A V V W A G p.220
. . . . . . g.6933
CAGCTGCAAGGAAAACTGGTTGCCATCAAGGCCTTCCCACCGAGGTCTGTGGCTCAGTTC c.720
Q L Q G K L V A I K A F P P R S V A Q F p.240
. . . . . . g.6993
CAAGCTGAGAGAGCATTGTACGAACTTCCAGGCCTACAGCACGACCACATTGTCCGATTT c.780
Q A E R A L Y E L P G L Q H D H I V R F p.260
. . . . . . g.7053
ATCACTGCCAGCCGGGGGGGTCCTGGCCGCCTGCTCTCTGGGCCCCTGCTGGTACTGGAA c.840
I T A S R G G P G R L L S G P L L V L E p.280
. | 07 . . . . . g.10089
CTGCATCCCAAG | GGCTCCCTGTGCCACTACTTGACCCAGTACACCAGTGACTGGGGAAGT c.900
L H P K | G S L C H Y L T Q Y T S D W G S p.300
. . . . . . g.10149
TCCCTGCGGATGGCACTGTCCCTGGCCCAGGGCCTGGCATTTCTCCATGAGGAGCGCTGG c.960
S L R M A L S L A Q G L A F L H E E R W p.320
| 08. . . . . . g.10651
CAGAATG | GCCAATATAAACCAGGTATTGCCCACCGAGATCTGAGCAGCCAGAATGTGCTC c.1020
Q N G | Q Y K P G I A H R D L S S Q N V L p.340
. . . . . . g.10711
ATTCGGGAAGATGGATCGTGTGCCATTGGAGACCTGGGCCTTGCCTTGGTGCTCCCTGGC c.1080
I R E D G S C A I G D L G L A L V L P G p.360
. . . . . . g.10771
CTCACTCAGCCCCCTGCCTGGACCCCTACTCAACCACAAGGCCCAGCTGCCATCATGGAA c.1140
L T Q P P A W T P T Q P Q G P A A I M E p.380
| 09 . . . . . . g.11036
| GCTGGCACCCAGAGGTACATGGCACCAGAGCTCTTGGACAAGACTCTGGACCTACAGGAT c.1200
| A G T Q R Y M A P E L L D K T L D L Q D p.400
. . . . . . g.11096
TGGGGCATGGCCCTCCGACGAGCTGATATTTACTCTTTGGCTCTGCTCCTGTGGGAGATA c.1260
W G M A L R R A D I Y S L A L L L W E I p.420
. . | 10 . . . g.11323
CTGAGCCGCTGCCCAGATTTGAGGCCTG | ACAGCAGTCCACCACCCTTCCAACTGGCCTAT c.1320
L S R C P D L R P D | S S P P P F Q L A Y p.440
. . . . . . g.11383
GAGGCAGAACTGGGCAATACCCCTACCTCTGATGAGCTATGGGCCTTGGCAGTGCAGGAG c.1380
E A E L G N T P T S D E L W A L A V Q E p.460
. . . . | 11 . . g.12337
AGGAGGCGTCCCTACATCCCATCCACCTGGCGCTGCTTTGCCACA | GACCCTGATGGGCTG c.1440
R R R P Y I P S T W R C F A T | D P D G L p.480
. . . . . . g.12397
AGGGAGCTCCTAGAAGACTGTTGGGATGCAGACCCAGAAGCACGGCTGACAGCTGAGTGT c.1500
R E L L E D C W D A D P E A R L T A E C p.500
. . . . . . g.12457
GTACAGCAGCGCCTGGCTGCCTTGGCCCATCCTCAAGAGAGCCACCCCTTTCCAGAGAGC c.1560
V Q Q R L A A L A H P Q E S H P F P E S p.520
. . . . . . g.12517
TGTCCACGTGGCTGCCCACCTCTCTGCCCAGAAGACTGTACTTCAATTCCTGCCCCTACC c.1620
C P R G C P P L C P E D C T S I P A P T p.540
. . . . . . g.12577
ATCCTCCCCTGTAGGCCTCAGCGGAGTGCCTGCCACTTCAGCGTTCAGCAAGGCCCTTGT c.1680
I L P C R P Q R S A C H F S V Q Q G P C p.560
. . . . g.12619
TCCAGGAATCCTCAGCCTGCCTGTACCCTTTCTCCTGTGTAA c.1722
S R N P Q P A C T L S P V X p.573
. . . . . . g.12679
atatgcagtttatgtgtcatcaatgtacatgccaacataaatatggcgattgtatagctg c.*60
g.12680
t c.*61
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 17
©2004-2016 Leiden University Medical Center