Canonical Allele Identifier: CA385095439

Gene: AMHR2

Linked Data

• gnomAD v4: 12-53429943-G-A
• MyVariant Identifiers: chr12:g.53823727G>A (hg19) ; chr12:g.53429943G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53429943G>A , CM000674.2:g.53429943G>A	GRCh38
NC_000012.11:g.53823727G>A , CM000674.1:g.53823727G>A	GRCh37
NC_000012.10:g.52109994G>A	NCBI36
NG_015981.1:g.11089G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257863.9:c.1253G>A MANE Select	ENSP00000257863.3:p.Trp418Ter
ENST00000257863.8:c.1253G>A	ENSP00000257863.3:p.Trp418Ter
ENST00000379791.7:c.1140+318G>A	ENSP00000369117.3:n.1140+318G>A
ENST00000550311.5:c.1253G>A	ENSP00000446661.1:p.Trp418Ter
ENST00000550839.1:c.344G>A	ENSP00000455338.1:p.Trp115Ter
ENST00000552233.5:n.841G>A
NM_001164690.1:c.1253G>A	NP_001158162.1:p.Trp418Ter
NM_001164691.1:c.1140+318G>A	NP_001158163.1:n.1140+318G>A
NM_020547.2:c.1253G>A	NP_065434.1:p.Trp418Ter
XM_011538173.1:c.1313G>A	XP_011536475.1:p.Trp438Ter
XM_011538174.1:c.1310G>A	XP_011536476.1:p.Trp437Ter
XM_011538175.1:c.1295G>A	XP_011536477.1:p.Trp432Ter
XM_011538176.1:c.1256G>A	XP_011536478.1:p.Trp419Ter
XM_011538177.1:c.1235G>A	XP_011536479.1:p.Trp412Ter
XM_011538178.1:c.1094G>A	XP_011536480.1:p.Trp365Ter
XM_011538179.1:c.1200+318G>A	XP_011536481.1:n.1200+318G>A
XM_011538180.1:c.980G>A	XP_011536482.1:p.Trp327Ter
XM_011538181.1:c.977G>A	XP_011536483.1:p.Trp326Ter
XM_011538182.1:c.902G>A	XP_011536484.1:p.Trp301Ter
XM_011538183.1:c.1201-203G>A	XP_011536485.1:n.1201-203G>A
XM_011538184.1:c.1220+298G>A	XP_011536486.1:n.1220+298G>A
XM_011538185.1:c.856-1234G>A	XP_011536487.1:n.856-1234G>A
XM_011538186.1:c.428G>A	XP_011536488.1:p.Trp143Ter
NM_001164690.2:c.1253G>A	NP_001158162.1:p.Trp418Ter
NM_001164691.2:c.1140+318G>A	NP_001158163.1:n.1140+318G>A
NM_020547.3:c.1253G>A MANE Select	NP_065434.1:p.Trp418Ter
XM_011538183.2:c.1201-203G>A	XP_011536485.1:n.1201-203G>A
XM_011538184.2:c.1220+298G>A	XP_011536486.1:n.1220+298G>A
XM_011538186.3:c.428G>A	XP_011536488.1:p.Trp143Ter
XM_017019179.2:c.1313G>A	XP_016874668.1:p.Trp438Ter
XM_024448938.1:c.1143+318G>A	XP_024304706.1:n.1143+318G>A
XR_002957309.1:n.1221G>A
XR_002957310.1:n.1109-203G>A
XR_002957311.1:n.1221G>A
XR_002957312.1:n.1108+318G>A