Canonical Allele Identifier: CA480086736

Gene: AMHR2

Linked Data

• MyVariant Identifiers: chr12:g.53823617T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53429833T>A , CM000674.2:g.53429833T>A	GRCh38
NC_000012.11:g.53823617T>A , CM000674.1:g.53823617T>A	GRCh37
NC_000012.10:g.52109884T>A	NCBI36
NG_015981.1:g.10979T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000257863.9:c.1143T>A MANE Select	ENSP00000257863.3:p.Ala381=
ENST00000257863.8:c.1143T>A	ENSP00000257863.3:p.Ala381=
ENST00000379791.7:c.1140+208T>A	ENSP00000369117.3:n.1140+208T>A
ENST00000550311.5:c.1143T>A	ENSP00000446661.1:p.Ala381=
ENST00000550839.1:c.234T>A	ENSP00000455338.1:p.Ala78=
ENST00000552233.5:n.731T>A
NM_001164690.1:c.1143T>A	NP_001158162.1:p.Ala381=
NM_001164691.1:c.1140+208T>A	NP_001158163.1:n.1140+208T>A
NM_020547.2:c.1143T>A	NP_065434.1:p.Ala381=
XM_011538173.1:c.1203T>A	XP_011536475.1:p.Ala401=
XM_011538174.1:c.1200T>A	XP_011536476.1:p.Ala400=
XM_011538175.1:c.1185T>A	XP_011536477.1:p.Ala395=
XM_011538176.1:c.1146T>A	XP_011536478.1:p.Ala382=
XM_011538177.1:c.1125T>A	XP_011536479.1:p.Ala375=
XM_011538178.1:c.984T>A	XP_011536480.1:p.Ala328=
XM_011538179.1:c.1200+208T>A	XP_011536481.1:n.1200+208T>A
XM_011538180.1:c.870T>A	XP_011536482.1:p.Ala290=
XM_011538181.1:c.867T>A	XP_011536483.1:p.Ala289=
XM_011538182.1:c.792T>A	XP_011536484.1:p.Ala264=
XM_011538183.1:c.1200+208T>A	XP_011536485.1:n.1200+208T>A
XM_011538184.1:c.1220+188T>A	XP_011536486.1:n.1220+188T>A
XM_011538185.1:c.856-1344T>A	XP_011536487.1:n.856-1344T>A
XM_011538186.1:c.318T>A	XP_011536488.1:p.Ala106=
NM_001164690.2:c.1143T>A	NP_001158162.1:p.Ala381=
NM_001164691.2:c.1140+208T>A	NP_001158163.1:n.1140+208T>A
NM_020547.3:c.1143T>A MANE Select	NP_065434.1:p.Ala381=
XM_011538183.2:c.1200+208T>A	XP_011536485.1:n.1200+208T>A
XM_011538184.2:c.1220+188T>A	XP_011536486.1:n.1220+188T>A
XM_011538186.3:c.318T>A	XP_011536488.1:p.Ala106=
XM_017019179.2:c.1203T>A	XP_016874668.1:p.Ala401=
XM_024448938.1:c.1143+208T>A	XP_024304706.1:n.1143+208T>A
XR_002957309.1:n.1111T>A
XR_002957310.1:n.1108+208T>A
XR_002957311.1:n.1111T>A
XR_002957312.1:n.1108+208T>A