Canonical Allele Identifier: CA385095604

Gene: AMHR2

Linked Data

• MyVariant Identifiers: chr12:g.53823762G>A (hg19) ; chr12:g.53429978G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53429978G>A , CM000674.2:g.53429978G>A	GRCh38
NC_000012.11:g.53823762G>A , CM000674.1:g.53823762G>A	GRCh37
NC_000012.10:g.52110029G>A	NCBI36
NG_015981.1:g.11124G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257863.9:c.1288G>A MANE Select	ENSP00000257863.3:p.Asp430Asn
ENST00000257863.8:c.1288G>A	ENSP00000257863.3:p.Asp430Asn
ENST00000379791.7:c.1140+353G>A	ENSP00000369117.3:n.1140+353G>A
ENST00000550311.5:c.1288G>A	ENSP00000446661.1:p.Ala430Thr
ENST00000550839.1:c.379G>A	ENSP00000455338.1:p.Asp127Asn
ENST00000552233.5:n.876G>A
NM_001164690.1:c.1288G>A	NP_001158162.1:p.Ala430Thr
NM_001164691.1:c.1140+353G>A	NP_001158163.1:n.1140+353G>A
NM_020547.2:c.1288G>A	NP_065434.1:p.Asp430Asn
XM_011538173.1:c.1348G>A	XP_011536475.1:p.Asp450Asn
XM_011538174.1:c.1345G>A	XP_011536476.1:p.Asp449Asn
XM_011538175.1:c.1330G>A	XP_011536477.1:p.Asp444Asn
XM_011538176.1:c.1291G>A	XP_011536478.1:p.Asp431Asn
XM_011538177.1:c.1270G>A	XP_011536479.1:p.Asp424Asn
XM_011538178.1:c.1129G>A	XP_011536480.1:p.Asp377Asn
XM_011538179.1:c.1200+353G>A	XP_011536481.1:n.1200+353G>A
XM_011538180.1:c.1015G>A	XP_011536482.1:p.Asp339Asn
XM_011538181.1:c.1012G>A	XP_011536483.1:p.Asp338Asn
XM_011538182.1:c.937G>A	XP_011536484.1:p.Asp313Asn
XM_011538183.1:c.1201-168G>A	XP_011536485.1:n.1201-168G>A
XM_011538184.1:c.1220+333G>A	XP_011536486.1:n.1220+333G>A
XM_011538185.1:c.856-1199G>A	XP_011536487.1:n.856-1199G>A
XM_011538186.1:c.463G>A	XP_011536488.1:p.Asp155Asn
NM_001164690.2:c.1288G>A	NP_001158162.1:p.Ala430Thr
NM_001164691.2:c.1140+353G>A	NP_001158163.1:n.1140+353G>A
NM_020547.3:c.1288G>A MANE Select	NP_065434.1:p.Asp430Asn
XM_011538183.2:c.1201-168G>A	XP_011536485.1:n.1201-168G>A
XM_011538184.2:c.1220+333G>A	XP_011536486.1:n.1220+333G>A
XM_011538186.3:c.463G>A	XP_011536488.1:p.Asp155Asn
XM_017019179.2:c.1348G>A	XP_016874668.1:p.Gly450Arg
XM_024448938.1:c.1143+353G>A	XP_024304706.1:n.1143+353G>A
XR_002957309.1:n.1256G>A
XR_002957310.1:n.1109-168G>A
XR_002957311.1:n.1256G>A
XR_002957312.1:n.1108+353G>A