Canonical Allele Identifier: CA2557091049

Gene: AMHR2

Linked Data

• gnomAD v4: 12-53430007-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53430007C>A , CM000674.2:g.53430007C>A	GRCh38
NC_000012.11:g.53823791C>A , CM000674.1:g.53823791C>A	GRCh37
NC_000012.10:g.52110058C>A	NCBI36
NG_015981.1:g.11153C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257863.9:c.1288+29C>A MANE Select	ENSP00000257863.3:n.1288+29C>A
ENST00000257863.8:c.1288+29C>A	ENSP00000257863.3:n.1288+29C>A
ENST00000379791.7:c.1140+382C>A	ENSP00000369117.3:n.1140+382C>A
ENST00000550311.5:c.1288+29C>A	ENSP00000446661.1:n.1288+29C>A
ENST00000550839.1:c.379+29C>A	ENSP00000455338.1:n.379+29C>A
ENST00000552233.5:n.905C>A
NM_001164690.1:c.1288+29C>A	NP_001158162.1:n.1288+29C>A
NM_001164691.1:c.1140+382C>A	NP_001158163.1:n.1140+382C>A
NM_020547.2:c.1288+29C>A	NP_065434.1:n.1288+29C>A
XM_011538173.1:c.1348+29C>A	XP_011536475.1:n.1348+29C>A
XM_011538174.1:c.1345+29C>A	XP_011536476.1:n.1345+29C>A
XM_011538175.1:c.1330+29C>A	XP_011536477.1:n.1330+29C>A
XM_011538176.1:c.1291+29C>A	XP_011536478.1:n.1291+29C>A
XM_011538177.1:c.1270+29C>A	XP_011536479.1:n.1270+29C>A
XM_011538178.1:c.1129+29C>A	XP_011536480.1:n.1129+29C>A
XM_011538179.1:c.1200+382C>A	XP_011536481.1:n.1200+382C>A
XM_011538180.1:c.1015+29C>A	XP_011536482.1:n.1015+29C>A
XM_011538181.1:c.1012+29C>A	XP_011536483.1:n.1012+29C>A
XM_011538182.1:c.937+29C>A	XP_011536484.1:n.937+29C>A
XM_011538183.1:c.1201-139C>A	XP_011536485.1:n.1201-139C>A
XM_011538184.1:c.1220+362C>A	XP_011536486.1:n.1220+362C>A
XM_011538185.1:c.856-1170C>A	XP_011536487.1:n.856-1170C>A
XM_011538186.1:c.463+29C>A	XP_011536488.1:n.463+29C>A
NM_001164690.2:c.1288+29C>A	NP_001158162.1:n.1288+29C>A
NM_001164691.2:c.1140+382C>A	NP_001158163.1:n.1140+382C>A
NM_020547.3:c.1288+29C>A MANE Select	NP_065434.1:n.1288+29C>A
XM_011538183.2:c.1201-139C>A	XP_011536485.1:n.1201-139C>A
XM_011538184.2:c.1220+362C>A	XP_011536486.1:n.1220+362C>A
XM_011538186.3:c.463+29C>A	XP_011536488.1:n.463+29C>A
XM_017019179.2:c.1348+29C>A	XP_016874668.1:n.1348+29C>A
XM_024448938.1:c.1143+382C>A	XP_024304706.1:n.1143+382C>A
XR_002957309.1:n.1256+29C>A
XR_002957310.1:n.1109-139C>A
XR_002957311.1:n.1256+29C>A
XR_002957312.1:n.1108+382C>A