Canonical Allele Identifier: CA385095585

Gene: AMHR2

Linked Data

• dbSNP Id: rs1565839762
• gnomAD v4: 12-53429973-G-A
• MyVariant Identifiers: chr12:g.53823757G>A (hg19) ; chr12:g.53429973G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53429973G>A , CM000674.2:g.53429973G>A	GRCh38
NC_000012.11:g.53823757G>A , CM000674.1:g.53823757G>A	GRCh37
NC_000012.10:g.52110024G>A	NCBI36
NG_015981.1:g.11119G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257863.9:c.1283G>A MANE Select	ENSP00000257863.3:p.Arg428Lys
ENST00000257863.8:c.1283G>A	ENSP00000257863.3:p.Arg428Lys
ENST00000379791.7:c.1140+348G>A	ENSP00000369117.3:n.1140+348G>A
ENST00000550311.5:c.1283G>A	ENSP00000446661.1:p.Arg428Lys
ENST00000550839.1:c.374G>A	ENSP00000455338.1:p.Arg125Lys
ENST00000552233.5:n.871G>A
NM_001164690.1:c.1283G>A	NP_001158162.1:p.Arg428Lys
NM_001164691.1:c.1140+348G>A	NP_001158163.1:n.1140+348G>A
NM_020547.2:c.1283G>A	NP_065434.1:p.Arg428Lys
XM_011538173.1:c.1343G>A	XP_011536475.1:p.Arg448Lys
XM_011538174.1:c.1340G>A	XP_011536476.1:p.Arg447Lys
XM_011538175.1:c.1325G>A	XP_011536477.1:p.Arg442Lys
XM_011538176.1:c.1286G>A	XP_011536478.1:p.Arg429Lys
XM_011538177.1:c.1265G>A	XP_011536479.1:p.Arg422Lys
XM_011538178.1:c.1124G>A	XP_011536480.1:p.Arg375Lys
XM_011538179.1:c.1200+348G>A	XP_011536481.1:n.1200+348G>A
XM_011538180.1:c.1010G>A	XP_011536482.1:p.Arg337Lys
XM_011538181.1:c.1007G>A	XP_011536483.1:p.Arg336Lys
XM_011538182.1:c.932G>A	XP_011536484.1:p.Arg311Lys
XM_011538183.1:c.1201-173G>A	XP_011536485.1:n.1201-173G>A
XM_011538184.1:c.1220+328G>A	XP_011536486.1:n.1220+328G>A
XM_011538185.1:c.856-1204G>A	XP_011536487.1:n.856-1204G>A
XM_011538186.1:c.458G>A	XP_011536488.1:p.Arg153Lys
NM_001164690.2:c.1283G>A	NP_001158162.1:p.Arg428Lys
NM_001164691.2:c.1140+348G>A	NP_001158163.1:n.1140+348G>A
NM_020547.3:c.1283G>A MANE Select	NP_065434.1:p.Arg428Lys
XM_011538183.2:c.1201-173G>A	XP_011536485.1:n.1201-173G>A
XM_011538184.2:c.1220+328G>A	XP_011536486.1:n.1220+328G>A
XM_011538186.3:c.458G>A	XP_011536488.1:p.Arg153Lys
XM_017019179.2:c.1343G>A	XP_016874668.1:p.Arg448Lys
XM_024448938.1:c.1143+348G>A	XP_024304706.1:n.1143+348G>A
XR_002957309.1:n.1251G>A
XR_002957310.1:n.1109-173G>A
XR_002957311.1:n.1251G>A
XR_002957312.1:n.1108+348G>A