Canonical Allele Identifier: CA480086847

Gene: AMHR2

Linked Data

• gnomAD v4: 12-53429881-C-T
• MyVariant Identifiers: chr12:g.53823665C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53429881C>T , CM000674.2:g.53429881C>T	GRCh38
NC_000012.11:g.53823665C>T , CM000674.1:g.53823665C>T	GRCh37
NC_000012.10:g.52109932C>T	NCBI36
NG_015981.1:g.11027C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257863.9:c.1191C>T MANE Select	ENSP00000257863.3:p.Asp397=
ENST00000257863.8:c.1191C>T	ENSP00000257863.3:p.Asp397=
ENST00000379791.7:c.1140+256C>T	ENSP00000369117.3:n.1140+256C>T
ENST00000550311.5:c.1191C>T	ENSP00000446661.1:p.Asp397=
ENST00000550839.1:c.282C>T	ENSP00000455338.1:p.Asp94=
ENST00000552233.5:n.779C>T
NM_001164690.1:c.1191C>T	NP_001158162.1:p.Asp397=
NM_001164691.1:c.1140+256C>T	NP_001158163.1:n.1140+256C>T
NM_020547.2:c.1191C>T	NP_065434.1:p.Asp397=
XM_011538173.1:c.1251C>T	XP_011536475.1:p.Asp417=
XM_011538174.1:c.1248C>T	XP_011536476.1:p.Asp416=
XM_011538175.1:c.1233C>T	XP_011536477.1:p.Asp411=
XM_011538176.1:c.1194C>T	XP_011536478.1:p.Asp398=
XM_011538177.1:c.1173C>T	XP_011536479.1:p.Asp391=
XM_011538178.1:c.1032C>T	XP_011536480.1:p.Asp344=
XM_011538179.1:c.1200+256C>T	XP_011536481.1:n.1200+256C>T
XM_011538180.1:c.918C>T	XP_011536482.1:p.Asp306=
XM_011538181.1:c.915C>T	XP_011536483.1:p.Asp305=
XM_011538182.1:c.840C>T	XP_011536484.1:p.Asp280=
XM_011538183.1:c.1200+256C>T	XP_011536485.1:n.1200+256C>T
XM_011538184.1:c.1220+236C>T	XP_011536486.1:n.1220+236C>T
XM_011538185.1:c.856-1296C>T	XP_011536487.1:n.856-1296C>T
XM_011538186.1:c.366C>T	XP_011536488.1:p.Asp122=
NM_001164690.2:c.1191C>T	NP_001158162.1:p.Asp397=
NM_001164691.2:c.1140+256C>T	NP_001158163.1:n.1140+256C>T
NM_020547.3:c.1191C>T MANE Select	NP_065434.1:p.Asp397=
XM_011538183.2:c.1200+256C>T	XP_011536485.1:n.1200+256C>T
XM_011538184.2:c.1220+236C>T	XP_011536486.1:n.1220+236C>T
XM_011538186.3:c.366C>T	XP_011536488.1:p.Asp122=
XM_017019179.2:c.1251C>T	XP_016874668.1:p.Asp417=
XM_024448938.1:c.1143+256C>T	XP_024304706.1:n.1143+256C>T
XR_002957309.1:n.1159C>T
XR_002957310.1:n.1108+256C>T
XR_002957311.1:n.1159C>T
XR_002957312.1:n.1108+256C>T