Canonical Allele Identifier: CA2619053315

Gene: AMHR2

Linked Data

• gnomAD v4: 12-53430027-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53430027T>A , CM000674.2:g.53430027T>A	GRCh38
NC_000012.11:g.53823811T>A , CM000674.1:g.53823811T>A	GRCh37
NC_000012.10:g.52110078T>A	NCBI36
NG_015981.1:g.11173T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257863.9:c.1288+49T>A MANE Select	ENSP00000257863.3:n.1288+49T>A
ENST00000257863.8:c.1288+49T>A	ENSP00000257863.3:n.1288+49T>A
ENST00000379791.7:c.1140+402T>A	ENSP00000369117.3:n.1140+402T>A
ENST00000550311.5:c.1288+49T>A	ENSP00000446661.1:n.1288+49T>A
ENST00000550839.1:c.379+49T>A	ENSP00000455338.1:n.379+49T>A
ENST00000552233.5:n.925T>A
NM_001164690.1:c.1288+49T>A	NP_001158162.1:n.1288+49T>A
NM_001164691.1:c.1140+402T>A	NP_001158163.1:n.1140+402T>A
NM_020547.2:c.1288+49T>A	NP_065434.1:n.1288+49T>A
XM_011538173.1:c.1348+49T>A	XP_011536475.1:n.1348+49T>A
XM_011538174.1:c.1345+49T>A	XP_011536476.1:n.1345+49T>A
XM_011538175.1:c.1330+49T>A	XP_011536477.1:n.1330+49T>A
XM_011538176.1:c.1291+49T>A	XP_011536478.1:n.1291+49T>A
XM_011538177.1:c.1270+49T>A	XP_011536479.1:n.1270+49T>A
XM_011538178.1:c.1129+49T>A	XP_011536480.1:n.1129+49T>A
XM_011538179.1:c.1200+402T>A	XP_011536481.1:n.1200+402T>A
XM_011538180.1:c.1015+49T>A	XP_011536482.1:n.1015+49T>A
XM_011538181.1:c.1012+49T>A	XP_011536483.1:n.1012+49T>A
XM_011538182.1:c.937+49T>A	XP_011536484.1:n.937+49T>A
XM_011538183.1:c.1201-119T>A	XP_011536485.1:n.1201-119T>A
XM_011538184.1:c.1220+382T>A	XP_011536486.1:n.1220+382T>A
XM_011538185.1:c.856-1150T>A	XP_011536487.1:n.856-1150T>A
XM_011538186.1:c.463+49T>A	XP_011536488.1:n.463+49T>A
NM_001164690.2:c.1288+49T>A	NP_001158162.1:n.1288+49T>A
NM_001164691.2:c.1140+402T>A	NP_001158163.1:n.1140+402T>A
NM_020547.3:c.1288+49T>A MANE Select	NP_065434.1:n.1288+49T>A
XM_011538183.2:c.1201-119T>A	XP_011536485.1:n.1201-119T>A
XM_011538184.2:c.1220+382T>A	XP_011536486.1:n.1220+382T>A
XM_011538186.3:c.463+49T>A	XP_011536488.1:n.463+49T>A
XM_017019179.2:c.1348+49T>A	XP_016874668.1:n.1348+49T>A
XM_024448938.1:c.1143+402T>A	XP_024304706.1:n.1143+402T>A
XR_002957309.1:n.1256+49T>A
XR_002957310.1:n.1109-119T>A
XR_002957311.1:n.1256+49T>A
XR_002957312.1:n.1108+402T>A