Canonical Allele Identifier: CA385095487

Gene: AMHR2

Linked Data

• COSMIC: COSM1933054
• MyVariant Identifiers: chr12:g.53823736T>A (hg19) ; chr12:g.53429952T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53429952T>A , CM000674.2:g.53429952T>A	GRCh38
NC_000012.11:g.53823736T>A , CM000674.1:g.53823736T>A	GRCh37
NC_000012.10:g.52110003T>A	NCBI36
NG_015981.1:g.11098T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257863.9:c.1262T>A MANE Select	ENSP00000257863.3:p.Leu421Gln
ENST00000257863.8:c.1262T>A	ENSP00000257863.3:p.Leu421Gln
ENST00000379791.7:c.1140+327T>A	ENSP00000369117.3:n.1140+327T>A
ENST00000550311.5:c.1262T>A	ENSP00000446661.1:p.Leu421Gln
ENST00000550839.1:c.353T>A	ENSP00000455338.1:p.Leu118Gln
ENST00000552233.5:n.850T>A
NM_001164690.1:c.1262T>A	NP_001158162.1:p.Leu421Gln
NM_001164691.1:c.1140+327T>A	NP_001158163.1:n.1140+327T>A
NM_020547.2:c.1262T>A	NP_065434.1:p.Leu421Gln
XM_011538173.1:c.1322T>A	XP_011536475.1:p.Leu441Gln
XM_011538174.1:c.1319T>A	XP_011536476.1:p.Leu440Gln
XM_011538175.1:c.1304T>A	XP_011536477.1:p.Leu435Gln
XM_011538176.1:c.1265T>A	XP_011536478.1:p.Leu422Gln
XM_011538177.1:c.1244T>A	XP_011536479.1:p.Leu415Gln
XM_011538178.1:c.1103T>A	XP_011536480.1:p.Leu368Gln
XM_011538179.1:c.1200+327T>A	XP_011536481.1:n.1200+327T>A
XM_011538180.1:c.989T>A	XP_011536482.1:p.Leu330Gln
XM_011538181.1:c.986T>A	XP_011536483.1:p.Leu329Gln
XM_011538182.1:c.911T>A	XP_011536484.1:p.Leu304Gln
XM_011538183.1:c.1201-194T>A	XP_011536485.1:n.1201-194T>A
XM_011538184.1:c.1220+307T>A	XP_011536486.1:n.1220+307T>A
XM_011538185.1:c.856-1225T>A	XP_011536487.1:n.856-1225T>A
XM_011538186.1:c.437T>A	XP_011536488.1:p.Leu146Gln
NM_001164690.2:c.1262T>A	NP_001158162.1:p.Leu421Gln
NM_001164691.2:c.1140+327T>A	NP_001158163.1:n.1140+327T>A
NM_020547.3:c.1262T>A MANE Select	NP_065434.1:p.Leu421Gln
XM_011538183.2:c.1201-194T>A	XP_011536485.1:n.1201-194T>A
XM_011538184.2:c.1220+307T>A	XP_011536486.1:n.1220+307T>A
XM_011538186.3:c.437T>A	XP_011536488.1:p.Leu146Gln
XM_017019179.2:c.1322T>A	XP_016874668.1:p.Leu441Gln
XM_024448938.1:c.1143+327T>A	XP_024304706.1:n.1143+327T>A
XR_002957309.1:n.1230T>A
XR_002957310.1:n.1109-194T>A
XR_002957311.1:n.1230T>A
XR_002957312.1:n.1108+327T>A