Canonical Allele Identifier: CA480086915

Gene: AMHR2

Linked Data

• gnomAD v4: 12-53429917-T-C
• MyVariant Identifiers: chr12:g.53823701T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53429917T>C , CM000674.2:g.53429917T>C	GRCh38
NC_000012.11:g.53823701T>C , CM000674.1:g.53823701T>C	GRCh37
NC_000012.10:g.52109968T>C	NCBI36
NG_015981.1:g.11063T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000257863.9:c.1227T>C MANE Select	ENSP00000257863.3:p.Asp409=
ENST00000257863.8:c.1227T>C	ENSP00000257863.3:p.Asp409=
ENST00000379791.7:c.1140+292T>C	ENSP00000369117.3:n.1140+292T>C
ENST00000550311.5:c.1227T>C	ENSP00000446661.1:p.Asp409=
ENST00000550839.1:c.318T>C	ENSP00000455338.1:p.Asp106=
ENST00000552233.5:n.815T>C
NM_001164690.1:c.1227T>C	NP_001158162.1:p.Asp409=
NM_001164691.1:c.1140+292T>C	NP_001158163.1:n.1140+292T>C
NM_020547.2:c.1227T>C	NP_065434.1:p.Asp409=
XM_011538173.1:c.1287T>C	XP_011536475.1:p.Asp429=
XM_011538174.1:c.1284T>C	XP_011536476.1:p.Asp428=
XM_011538175.1:c.1269T>C	XP_011536477.1:p.Asp423=
XM_011538176.1:c.1230T>C	XP_011536478.1:p.Asp410=
XM_011538177.1:c.1209T>C	XP_011536479.1:p.Asp403=
XM_011538178.1:c.1068T>C	XP_011536480.1:p.Asp356=
XM_011538179.1:c.1200+292T>C	XP_011536481.1:n.1200+292T>C
XM_011538180.1:c.954T>C	XP_011536482.1:p.Asp318=
XM_011538181.1:c.951T>C	XP_011536483.1:p.Asp317=
XM_011538182.1:c.876T>C	XP_011536484.1:p.Asp292=
XM_011538183.1:c.1201-229T>C	XP_011536485.1:n.1201-229T>C
XM_011538184.1:c.1220+272T>C	XP_011536486.1:n.1220+272T>C
XM_011538185.1:c.856-1260T>C	XP_011536487.1:n.856-1260T>C
XM_011538186.1:c.402T>C	XP_011536488.1:p.Asp134=
NM_001164690.2:c.1227T>C	NP_001158162.1:p.Asp409=
NM_001164691.2:c.1140+292T>C	NP_001158163.1:n.1140+292T>C
NM_020547.3:c.1227T>C MANE Select	NP_065434.1:p.Asp409=
XM_011538183.2:c.1201-229T>C	XP_011536485.1:n.1201-229T>C
XM_011538184.2:c.1220+272T>C	XP_011536486.1:n.1220+272T>C
XM_011538186.3:c.402T>C	XP_011536488.1:p.Asp134=
XM_017019179.2:c.1287T>C	XP_016874668.1:p.Asp429=
XM_024448938.1:c.1143+292T>C	XP_024304706.1:n.1143+292T>C
XR_002957309.1:n.1195T>C
XR_002957310.1:n.1109-229T>C
XR_002957311.1:n.1195T>C
XR_002957312.1:n.1108+292T>C