Canonical Allele Identifier: CA605120071

Gene: AMHR2

Linked Data

• dbSNP Id: rs376901844
• gnomAD v2: 12-53823804-C-A
• gnomAD v4: 12-53430020-C-A
• MyVariant Identifiers: chr12:g.53823804C>A (hg19) ; chr12:g.53430020C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53430020C>A , CM000674.2:g.53430020C>A	GRCh38
NC_000012.11:g.53823804C>A , CM000674.1:g.53823804C>A	GRCh37
NC_000012.10:g.52110071C>A	NCBI36
NG_015981.1:g.11166C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257863.9:c.1288+42C>A MANE Select	ENSP00000257863.3:n.1288+42C>A
ENST00000257863.8:c.1288+42C>A	ENSP00000257863.3:n.1288+42C>A
ENST00000379791.7:c.1140+395C>A	ENSP00000369117.3:n.1140+395C>A
ENST00000550311.5:c.1288+42C>A	ENSP00000446661.1:n.1288+42C>A
ENST00000550839.1:c.379+42C>A	ENSP00000455338.1:n.379+42C>A
ENST00000552233.5:n.918C>A
NM_001164690.1:c.1288+42C>A	NP_001158162.1:n.1288+42C>A
NM_001164691.1:c.1140+395C>A	NP_001158163.1:n.1140+395C>A
NM_020547.2:c.1288+42C>A	NP_065434.1:n.1288+42C>A
XM_011538173.1:c.1348+42C>A	XP_011536475.1:n.1348+42C>A
XM_011538174.1:c.1345+42C>A	XP_011536476.1:n.1345+42C>A
XM_011538175.1:c.1330+42C>A	XP_011536477.1:n.1330+42C>A
XM_011538176.1:c.1291+42C>A	XP_011536478.1:n.1291+42C>A
XM_011538177.1:c.1270+42C>A	XP_011536479.1:n.1270+42C>A
XM_011538178.1:c.1129+42C>A	XP_011536480.1:n.1129+42C>A
XM_011538179.1:c.1200+395C>A	XP_011536481.1:n.1200+395C>A
XM_011538180.1:c.1015+42C>A	XP_011536482.1:n.1015+42C>A
XM_011538181.1:c.1012+42C>A	XP_011536483.1:n.1012+42C>A
XM_011538182.1:c.937+42C>A	XP_011536484.1:n.937+42C>A
XM_011538183.1:c.1201-126C>A	XP_011536485.1:n.1201-126C>A
XM_011538184.1:c.1220+375C>A	XP_011536486.1:n.1220+375C>A
XM_011538185.1:c.856-1157C>A	XP_011536487.1:n.856-1157C>A
XM_011538186.1:c.463+42C>A	XP_011536488.1:n.463+42C>A
NM_001164690.2:c.1288+42C>A	NP_001158162.1:n.1288+42C>A
NM_001164691.2:c.1140+395C>A	NP_001158163.1:n.1140+395C>A
NM_020547.3:c.1288+42C>A MANE Select	NP_065434.1:n.1288+42C>A
XM_011538183.2:c.1201-126C>A	XP_011536485.1:n.1201-126C>A
XM_011538184.2:c.1220+375C>A	XP_011536486.1:n.1220+375C>A
XM_011538186.3:c.463+42C>A	XP_011536488.1:n.463+42C>A
XM_017019179.2:c.1348+42C>A	XP_016874668.1:n.1348+42C>A
XM_024448938.1:c.1143+395C>A	XP_024304706.1:n.1143+395C>A
XR_002957309.1:n.1256+42C>A
XR_002957310.1:n.1109-126C>A
XR_002957311.1:n.1256+42C>A
XR_002957312.1:n.1108+395C>A