Canonical Allele Identifier: CA480086901

Gene: AMHR2

Linked Data

• MyVariant Identifiers: chr12:g.53823692A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53429908A>T , CM000674.2:g.53429908A>T	GRCh38
NC_000012.11:g.53823692A>T , CM000674.1:g.53823692A>T	GRCh37
NC_000012.10:g.52109959A>T	NCBI36
NG_015981.1:g.11054A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000257863.9:c.1218A>T MANE Select	ENSP00000257863.3:p.Arg406=
ENST00000257863.8:c.1218A>T	ENSP00000257863.3:p.Arg406=
ENST00000379791.7:c.1140+283A>T	ENSP00000369117.3:n.1140+283A>T
ENST00000550311.5:c.1218A>T	ENSP00000446661.1:p.Arg406=
ENST00000550839.1:c.309A>T	ENSP00000455338.1:p.Arg103=
ENST00000552233.5:n.806A>T
NM_001164690.1:c.1218A>T	NP_001158162.1:p.Arg406=
NM_001164691.1:c.1140+283A>T	NP_001158163.1:n.1140+283A>T
NM_020547.2:c.1218A>T	NP_065434.1:p.Arg406=
XM_011538173.1:c.1278A>T	XP_011536475.1:p.Arg426=
XM_011538174.1:c.1275A>T	XP_011536476.1:p.Arg425=
XM_011538175.1:c.1260A>T	XP_011536477.1:p.Arg420=
XM_011538176.1:c.1221A>T	XP_011536478.1:p.Arg407=
XM_011538177.1:c.1200A>T	XP_011536479.1:p.Arg400=
XM_011538178.1:c.1059A>T	XP_011536480.1:p.Arg353=
XM_011538179.1:c.1200+283A>T	XP_011536481.1:n.1200+283A>T
XM_011538180.1:c.945A>T	XP_011536482.1:p.Arg315=
XM_011538181.1:c.942A>T	XP_011536483.1:p.Arg314=
XM_011538182.1:c.867A>T	XP_011536484.1:p.Arg289=
XM_011538183.1:c.1201-238A>T	XP_011536485.1:n.1201-238A>T
XM_011538184.1:c.1220+263A>T	XP_011536486.1:n.1220+263A>T
XM_011538185.1:c.856-1269A>T	XP_011536487.1:n.856-1269A>T
XM_011538186.1:c.393A>T	XP_011536488.1:p.Arg131=
NM_001164690.2:c.1218A>T	NP_001158162.1:p.Arg406=
NM_001164691.2:c.1140+283A>T	NP_001158163.1:n.1140+283A>T
NM_020547.3:c.1218A>T MANE Select	NP_065434.1:p.Arg406=
XM_011538183.2:c.1201-238A>T	XP_011536485.1:n.1201-238A>T
XM_011538184.2:c.1220+263A>T	XP_011536486.1:n.1220+263A>T
XM_011538186.3:c.393A>T	XP_011536488.1:p.Arg131=
XM_017019179.2:c.1278A>T	XP_016874668.1:p.Arg426=
XM_024448938.1:c.1143+283A>T	XP_024304706.1:n.1143+283A>T
XR_002957309.1:n.1186A>T
XR_002957310.1:n.1109-238A>T
XR_002957311.1:n.1186A>T
XR_002957312.1:n.1108+283A>T