Canonical Allele Identifier: CA385095550

Gene: AMHR2

Linked Data

• MyVariant Identifiers: chr12:g.53823750G>C (hg19) ; chr12:g.53429966G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53429966G>C , CM000674.2:g.53429966G>C	GRCh38
NC_000012.11:g.53823750G>C , CM000674.1:g.53823750G>C	GRCh37
NC_000012.10:g.52110017G>C	NCBI36
NG_015981.1:g.11112G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257863.9:c.1276G>C MANE Select	ENSP00000257863.3:p.Asp426His
ENST00000257863.8:c.1276G>C	ENSP00000257863.3:p.Asp426His
ENST00000379791.7:c.1140+341G>C	ENSP00000369117.3:n.1140+341G>C
ENST00000550311.5:c.1276G>C	ENSP00000446661.1:p.Asp426His
ENST00000550839.1:c.367G>C	ENSP00000455338.1:p.Asp123His
ENST00000552233.5:n.864G>C
NM_001164690.1:c.1276G>C	NP_001158162.1:p.Asp426His
NM_001164691.1:c.1140+341G>C	NP_001158163.1:n.1140+341G>C
NM_020547.2:c.1276G>C	NP_065434.1:p.Asp426His
XM_011538173.1:c.1336G>C	XP_011536475.1:p.Asp446His
XM_011538174.1:c.1333G>C	XP_011536476.1:p.Asp445His
XM_011538175.1:c.1318G>C	XP_011536477.1:p.Asp440His
XM_011538176.1:c.1279G>C	XP_011536478.1:p.Asp427His
XM_011538177.1:c.1258G>C	XP_011536479.1:p.Asp420His
XM_011538178.1:c.1117G>C	XP_011536480.1:p.Asp373His
XM_011538179.1:c.1200+341G>C	XP_011536481.1:n.1200+341G>C
XM_011538180.1:c.1003G>C	XP_011536482.1:p.Asp335His
XM_011538181.1:c.1000G>C	XP_011536483.1:p.Asp334His
XM_011538182.1:c.925G>C	XP_011536484.1:p.Asp309His
XM_011538183.1:c.1201-180G>C	XP_011536485.1:n.1201-180G>C
XM_011538184.1:c.1220+321G>C	XP_011536486.1:n.1220+321G>C
XM_011538185.1:c.856-1211G>C	XP_011536487.1:n.856-1211G>C
XM_011538186.1:c.451G>C	XP_011536488.1:p.Asp151His
NM_001164690.2:c.1276G>C	NP_001158162.1:p.Asp426His
NM_001164691.2:c.1140+341G>C	NP_001158163.1:n.1140+341G>C
NM_020547.3:c.1276G>C MANE Select	NP_065434.1:p.Asp426His
XM_011538183.2:c.1201-180G>C	XP_011536485.1:n.1201-180G>C
XM_011538184.2:c.1220+321G>C	XP_011536486.1:n.1220+321G>C
XM_011538186.3:c.451G>C	XP_011536488.1:p.Asp151His
XM_017019179.2:c.1336G>C	XP_016874668.1:p.Asp446His
XM_024448938.1:c.1143+341G>C	XP_024304706.1:n.1143+341G>C
XR_002957309.1:n.1244G>C
XR_002957310.1:n.1109-180G>C
XR_002957311.1:n.1244G>C
XR_002957312.1:n.1108+341G>C