Canonical Allele Identifier: CA385095558

Gene: AMHR2

Linked Data

• gnomAD v4: 12-53429968-T-A
• MyVariant Identifiers: chr12:g.53823752T>A (hg19) ; chr12:g.53429968T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53429968T>A , CM000674.2:g.53429968T>A	GRCh38
NC_000012.11:g.53823752T>A , CM000674.1:g.53823752T>A	GRCh37
NC_000012.10:g.52110019T>A	NCBI36
NG_015981.1:g.11114T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257863.9:c.1278T>A MANE Select	ENSP00000257863.3:p.Asp426Glu
ENST00000257863.8:c.1278T>A	ENSP00000257863.3:p.Asp426Glu
ENST00000379791.7:c.1140+343T>A	ENSP00000369117.3:n.1140+343T>A
ENST00000550311.5:c.1278T>A	ENSP00000446661.1:p.Asp426Glu
ENST00000550839.1:c.369T>A	ENSP00000455338.1:p.Asp123Glu
ENST00000552233.5:n.866T>A
NM_001164690.1:c.1278T>A	NP_001158162.1:p.Asp426Glu
NM_001164691.1:c.1140+343T>A	NP_001158163.1:n.1140+343T>A
NM_020547.2:c.1278T>A	NP_065434.1:p.Asp426Glu
XM_011538173.1:c.1338T>A	XP_011536475.1:p.Asp446Glu
XM_011538174.1:c.1335T>A	XP_011536476.1:p.Asp445Glu
XM_011538175.1:c.1320T>A	XP_011536477.1:p.Asp440Glu
XM_011538176.1:c.1281T>A	XP_011536478.1:p.Asp427Glu
XM_011538177.1:c.1260T>A	XP_011536479.1:p.Asp420Glu
XM_011538178.1:c.1119T>A	XP_011536480.1:p.Asp373Glu
XM_011538179.1:c.1200+343T>A	XP_011536481.1:n.1200+343T>A
XM_011538180.1:c.1005T>A	XP_011536482.1:p.Asp335Glu
XM_011538181.1:c.1002T>A	XP_011536483.1:p.Asp334Glu
XM_011538182.1:c.927T>A	XP_011536484.1:p.Asp309Glu
XM_011538183.1:c.1201-178T>A	XP_011536485.1:n.1201-178T>A
XM_011538184.1:c.1220+323T>A	XP_011536486.1:n.1220+323T>A
XM_011538185.1:c.856-1209T>A	XP_011536487.1:n.856-1209T>A
XM_011538186.1:c.453T>A	XP_011536488.1:p.Asp151Glu
NM_001164690.2:c.1278T>A	NP_001158162.1:p.Asp426Glu
NM_001164691.2:c.1140+343T>A	NP_001158163.1:n.1140+343T>A
NM_020547.3:c.1278T>A MANE Select	NP_065434.1:p.Asp426Glu
XM_011538183.2:c.1201-178T>A	XP_011536485.1:n.1201-178T>A
XM_011538184.2:c.1220+323T>A	XP_011536486.1:n.1220+323T>A
XM_011538186.3:c.453T>A	XP_011536488.1:p.Asp151Glu
XM_017019179.2:c.1338T>A	XP_016874668.1:p.Asp446Glu
XM_024448938.1:c.1143+343T>A	XP_024304706.1:n.1143+343T>A
XR_002957309.1:n.1246T>A
XR_002957310.1:n.1109-178T>A
XR_002957311.1:n.1246T>A
XR_002957312.1:n.1108+343T>A