Canonical Allele Identifier: CA385095418

Gene: AMHR2

Linked Data

• MyVariant Identifiers: chr12:g.53823721T>A (hg19) ; chr12:g.53429937T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53429937T>A , CM000674.2:g.53429937T>A	GRCh38
NC_000012.11:g.53823721T>A , CM000674.1:g.53823721T>A	GRCh37
NC_000012.10:g.52109988T>A	NCBI36
NG_015981.1:g.11083T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257863.9:c.1247T>A MANE Select	ENSP00000257863.3:p.Leu416His
ENST00000257863.8:c.1247T>A	ENSP00000257863.3:p.Leu416His
ENST00000379791.7:c.1140+312T>A	ENSP00000369117.3:n.1140+312T>A
ENST00000550311.5:c.1247T>A	ENSP00000446661.1:p.Leu416His
ENST00000550839.1:c.338T>A	ENSP00000455338.1:p.Leu113His
ENST00000552233.5:n.835T>A
NM_001164690.1:c.1247T>A	NP_001158162.1:p.Leu416His
NM_001164691.1:c.1140+312T>A	NP_001158163.1:n.1140+312T>A
NM_020547.2:c.1247T>A	NP_065434.1:p.Leu416His
XM_011538173.1:c.1307T>A	XP_011536475.1:p.Leu436His
XM_011538174.1:c.1304T>A	XP_011536476.1:p.Leu435His
XM_011538175.1:c.1289T>A	XP_011536477.1:p.Leu430His
XM_011538176.1:c.1250T>A	XP_011536478.1:p.Leu417His
XM_011538177.1:c.1229T>A	XP_011536479.1:p.Leu410His
XM_011538178.1:c.1088T>A	XP_011536480.1:p.Leu363His
XM_011538179.1:c.1200+312T>A	XP_011536481.1:n.1200+312T>A
XM_011538180.1:c.974T>A	XP_011536482.1:p.Leu325His
XM_011538181.1:c.971T>A	XP_011536483.1:p.Leu324His
XM_011538182.1:c.896T>A	XP_011536484.1:p.Leu299His
XM_011538183.1:c.1201-209T>A	XP_011536485.1:n.1201-209T>A
XM_011538184.1:c.1220+292T>A	XP_011536486.1:n.1220+292T>A
XM_011538185.1:c.856-1240T>A	XP_011536487.1:n.856-1240T>A
XM_011538186.1:c.422T>A	XP_011536488.1:p.Leu141His
NM_001164690.2:c.1247T>A	NP_001158162.1:p.Leu416His
NM_001164691.2:c.1140+312T>A	NP_001158163.1:n.1140+312T>A
NM_020547.3:c.1247T>A MANE Select	NP_065434.1:p.Leu416His
XM_011538183.2:c.1201-209T>A	XP_011536485.1:n.1201-209T>A
XM_011538184.2:c.1220+292T>A	XP_011536486.1:n.1220+292T>A
XM_011538186.3:c.422T>A	XP_011536488.1:p.Leu141His
XM_017019179.2:c.1307T>A	XP_016874668.1:p.Leu436His
XM_024448938.1:c.1143+312T>A	XP_024304706.1:n.1143+312T>A
XR_002957309.1:n.1215T>A
XR_002957310.1:n.1109-209T>A
XR_002957311.1:n.1215T>A
XR_002957312.1:n.1108+312T>A