Canonical Allele Identifier: CA237380592

Gene: AMHR2

Linked Data

• dbSNP Id: rs1038164924
• MyVariant Identifiers: chr12:g.53823753T>G (hg19) ; chr12:g.53429969T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53429969T>G , CM000674.2:g.53429969T>G	GRCh38
NC_000012.11:g.53823753T>G , CM000674.1:g.53823753T>G	GRCh37
NC_000012.10:g.52110020T>G	NCBI36
NG_015981.1:g.11115T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257863.9:c.1279T>G MANE Select	ENSP00000257863.3:p.Leu427Val
ENST00000257863.8:c.1279T>G	ENSP00000257863.3:p.Leu427Val
ENST00000379791.7:c.1140+344T>G	ENSP00000369117.3:n.1140+344T>G
ENST00000550311.5:c.1279T>G	ENSP00000446661.1:p.Leu427Val
ENST00000550839.1:c.370T>G	ENSP00000455338.1:p.Leu124Val
ENST00000552233.5:n.867T>G
NM_001164690.1:c.1279T>G	NP_001158162.1:p.Leu427Val
NM_001164691.1:c.1140+344T>G	NP_001158163.1:n.1140+344T>G
NM_020547.2:c.1279T>G	NP_065434.1:p.Leu427Val
XM_011538173.1:c.1339T>G	XP_011536475.1:p.Leu447Val
XM_011538174.1:c.1336T>G	XP_011536476.1:p.Leu446Val
XM_011538175.1:c.1321T>G	XP_011536477.1:p.Leu441Val
XM_011538176.1:c.1282T>G	XP_011536478.1:p.Leu428Val
XM_011538177.1:c.1261T>G	XP_011536479.1:p.Leu421Val
XM_011538178.1:c.1120T>G	XP_011536480.1:p.Leu374Val
XM_011538179.1:c.1200+344T>G	XP_011536481.1:n.1200+344T>G
XM_011538180.1:c.1006T>G	XP_011536482.1:p.Leu336Val
XM_011538181.1:c.1003T>G	XP_011536483.1:p.Leu335Val
XM_011538182.1:c.928T>G	XP_011536484.1:p.Leu310Val
XM_011538183.1:c.1201-177T>G	XP_011536485.1:n.1201-177T>G
XM_011538184.1:c.1220+324T>G	XP_011536486.1:n.1220+324T>G
XM_011538185.1:c.856-1208T>G	XP_011536487.1:n.856-1208T>G
XM_011538186.1:c.454T>G	XP_011536488.1:p.Leu152Val
NM_001164690.2:c.1279T>G	NP_001158162.1:p.Leu427Val
NM_001164691.2:c.1140+344T>G	NP_001158163.1:n.1140+344T>G
NM_020547.3:c.1279T>G MANE Select	NP_065434.1:p.Leu427Val
XM_011538183.2:c.1201-177T>G	XP_011536485.1:n.1201-177T>G
XM_011538184.2:c.1220+324T>G	XP_011536486.1:n.1220+324T>G
XM_011538186.3:c.454T>G	XP_011536488.1:p.Leu152Val
XM_017019179.2:c.1339T>G	XP_016874668.1:p.Leu447Val
XM_024448938.1:c.1143+344T>G	XP_024304706.1:n.1143+344T>G
XR_002957309.1:n.1247T>G
XR_002957310.1:n.1109-177T>G
XR_002957311.1:n.1247T>G
XR_002957312.1:n.1108+344T>G