Canonical Allele Identifier: CA480086865

Gene: AMHR2

Linked Data

• MyVariant Identifiers: chr12:g.53823674T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53429890T>C , CM000674.2:g.53429890T>C	GRCh38
NC_000012.11:g.53823674T>C , CM000674.1:g.53823674T>C	GRCh37
NC_000012.10:g.52109941T>C	NCBI36
NG_015981.1:g.11036T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257863.9:c.1200T>C MANE Select	ENSP00000257863.3:p.Asp400=
ENST00000257863.8:c.1200T>C	ENSP00000257863.3:p.Asp400=
ENST00000379791.7:c.1140+265T>C	ENSP00000369117.3:n.1140+265T>C
ENST00000550311.5:c.1200T>C	ENSP00000446661.1:p.Asp400=
ENST00000550839.1:c.291T>C	ENSP00000455338.1:p.Asp97=
ENST00000552233.5:n.788T>C
NM_001164690.1:c.1200T>C	NP_001158162.1:p.Asp400=
NM_001164691.1:c.1140+265T>C	NP_001158163.1:n.1140+265T>C
NM_020547.2:c.1200T>C	NP_065434.1:p.Asp400=
XM_011538173.1:c.1260T>C	XP_011536475.1:p.Asp420=
XM_011538174.1:c.1257T>C	XP_011536476.1:p.Asp419=
XM_011538175.1:c.1242T>C	XP_011536477.1:p.Asp414=
XM_011538176.1:c.1203T>C	XP_011536478.1:p.Asp401=
XM_011538177.1:c.1182T>C	XP_011536479.1:p.Asp394=
XM_011538178.1:c.1041T>C	XP_011536480.1:p.Asp347=
XM_011538179.1:c.1200+265T>C	XP_011536481.1:n.1200+265T>C
XM_011538180.1:c.927T>C	XP_011536482.1:p.Asp309=
XM_011538181.1:c.924T>C	XP_011536483.1:p.Asp308=
XM_011538182.1:c.849T>C	XP_011536484.1:p.Asp283=
XM_011538183.1:c.1201-256T>C	XP_011536485.1:n.1201-256T>C
XM_011538184.1:c.1220+245T>C	XP_011536486.1:n.1220+245T>C
XM_011538185.1:c.856-1287T>C	XP_011536487.1:n.856-1287T>C
XM_011538186.1:c.375T>C	XP_011536488.1:p.Asp125=
NM_001164690.2:c.1200T>C	NP_001158162.1:p.Asp400=
NM_001164691.2:c.1140+265T>C	NP_001158163.1:n.1140+265T>C
NM_020547.3:c.1200T>C MANE Select	NP_065434.1:p.Asp400=
XM_011538183.2:c.1201-256T>C	XP_011536485.1:n.1201-256T>C
XM_011538184.2:c.1220+245T>C	XP_011536486.1:n.1220+245T>C
XM_011538186.3:c.375T>C	XP_011536488.1:p.Asp125=
XM_017019179.2:c.1260T>C	XP_016874668.1:p.Asp420=
XM_024448938.1:c.1143+265T>C	XP_024304706.1:n.1143+265T>C
XR_002957309.1:n.1168T>C
XR_002957310.1:n.1109-256T>C
XR_002957311.1:n.1168T>C
XR_002957312.1:n.1108+265T>C