Canonical Allele Identifier: CA385095214

Gene: AMHR2

Linked Data

• MyVariant Identifiers: chr12:g.53823666C>G (hg19) ; chr12:g.53429882C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53429882C>G , CM000674.2:g.53429882C>G	GRCh38
NC_000012.11:g.53823666C>G , CM000674.1:g.53823666C>G	GRCh37
NC_000012.10:g.52109933C>G	NCBI36
NG_015981.1:g.11028C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257863.9:c.1192C>G MANE Select	ENSP00000257863.3:p.Leu398Val
ENST00000257863.8:c.1192C>G	ENSP00000257863.3:p.Leu398Val
ENST00000379791.7:c.1140+257C>G	ENSP00000369117.3:n.1140+257C>G
ENST00000550311.5:c.1192C>G	ENSP00000446661.1:p.Leu398Val
ENST00000550839.1:c.283C>G	ENSP00000455338.1:p.Leu95Val
ENST00000552233.5:n.780C>G
NM_001164690.1:c.1192C>G	NP_001158162.1:p.Leu398Val
NM_001164691.1:c.1140+257C>G	NP_001158163.1:n.1140+257C>G
NM_020547.2:c.1192C>G	NP_065434.1:p.Leu398Val
XM_011538173.1:c.1252C>G	XP_011536475.1:p.Leu418Val
XM_011538174.1:c.1249C>G	XP_011536476.1:p.Leu417Val
XM_011538175.1:c.1234C>G	XP_011536477.1:p.Leu412Val
XM_011538176.1:c.1195C>G	XP_011536478.1:p.Leu399Val
XM_011538177.1:c.1174C>G	XP_011536479.1:p.Leu392Val
XM_011538178.1:c.1033C>G	XP_011536480.1:p.Leu345Val
XM_011538179.1:c.1200+257C>G	XP_011536481.1:n.1200+257C>G
XM_011538180.1:c.919C>G	XP_011536482.1:p.Leu307Val
XM_011538181.1:c.916C>G	XP_011536483.1:p.Leu306Val
XM_011538182.1:c.841C>G	XP_011536484.1:p.Leu281Val
XM_011538183.1:c.1200+257C>G	XP_011536485.1:n.1200+257C>G
XM_011538184.1:c.1220+237C>G	XP_011536486.1:n.1220+237C>G
XM_011538185.1:c.856-1295C>G	XP_011536487.1:n.856-1295C>G
XM_011538186.1:c.367C>G	XP_011536488.1:p.Leu123Val
NM_001164690.2:c.1192C>G	NP_001158162.1:p.Leu398Val
NM_001164691.2:c.1140+257C>G	NP_001158163.1:n.1140+257C>G
NM_020547.3:c.1192C>G MANE Select	NP_065434.1:p.Leu398Val
XM_011538183.2:c.1200+257C>G	XP_011536485.1:n.1200+257C>G
XM_011538184.2:c.1220+237C>G	XP_011536486.1:n.1220+237C>G
XM_011538186.3:c.367C>G	XP_011536488.1:p.Leu123Val
XM_017019179.2:c.1252C>G	XP_016874668.1:p.Leu418Val
XM_024448938.1:c.1143+257C>G	XP_024304706.1:n.1143+257C>G
XR_002957309.1:n.1160C>G
XR_002957310.1:n.1108+257C>G
XR_002957311.1:n.1160C>G
XR_002957312.1:n.1108+257C>G