Canonical Allele Identifier: CA385095252

Gene: AMHR2

Linked Data

• MyVariant Identifiers: chr12:g.53823679G>C (hg19) ; chr12:g.53429895G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53429895G>C , CM000674.2:g.53429895G>C	GRCh38
NC_000012.11:g.53823679G>C , CM000674.1:g.53823679G>C	GRCh37
NC_000012.10:g.52109946G>C	NCBI36
NG_015981.1:g.11041G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257863.9:c.1205G>C MANE Select	ENSP00000257863.3:p.Gly402Ala
ENST00000257863.8:c.1205G>C	ENSP00000257863.3:p.Gly402Ala
ENST00000379791.7:c.1140+270G>C	ENSP00000369117.3:n.1140+270G>C
ENST00000550311.5:c.1205G>C	ENSP00000446661.1:p.Gly402Ala
ENST00000550839.1:c.296G>C	ENSP00000455338.1:p.Gly99Ala
ENST00000552233.5:n.793G>C
NM_001164690.1:c.1205G>C	NP_001158162.1:p.Gly402Ala
NM_001164691.1:c.1140+270G>C	NP_001158163.1:n.1140+270G>C
NM_020547.2:c.1205G>C	NP_065434.1:p.Gly402Ala
XM_011538173.1:c.1265G>C	XP_011536475.1:p.Gly422Ala
XM_011538174.1:c.1262G>C	XP_011536476.1:p.Gly421Ala
XM_011538175.1:c.1247G>C	XP_011536477.1:p.Gly416Ala
XM_011538176.1:c.1208G>C	XP_011536478.1:p.Gly403Ala
XM_011538177.1:c.1187G>C	XP_011536479.1:p.Gly396Ala
XM_011538178.1:c.1046G>C	XP_011536480.1:p.Gly349Ala
XM_011538179.1:c.1200+270G>C	XP_011536481.1:n.1200+270G>C
XM_011538180.1:c.932G>C	XP_011536482.1:p.Gly311Ala
XM_011538181.1:c.929G>C	XP_011536483.1:p.Gly310Ala
XM_011538182.1:c.854G>C	XP_011536484.1:p.Gly285Ala
XM_011538183.1:c.1201-251G>C	XP_011536485.1:n.1201-251G>C
XM_011538184.1:c.1220+250G>C	XP_011536486.1:n.1220+250G>C
XM_011538185.1:c.856-1282G>C	XP_011536487.1:n.856-1282G>C
XM_011538186.1:c.380G>C	XP_011536488.1:p.Gly127Ala
NM_001164690.2:c.1205G>C	NP_001158162.1:p.Gly402Ala
NM_001164691.2:c.1140+270G>C	NP_001158163.1:n.1140+270G>C
NM_020547.3:c.1205G>C MANE Select	NP_065434.1:p.Gly402Ala
XM_011538183.2:c.1201-251G>C	XP_011536485.1:n.1201-251G>C
XM_011538184.2:c.1220+250G>C	XP_011536486.1:n.1220+250G>C
XM_011538186.3:c.380G>C	XP_011536488.1:p.Gly127Ala
XM_017019179.2:c.1265G>C	XP_016874668.1:p.Gly422Ala
XM_024448938.1:c.1143+270G>C	XP_024304706.1:n.1143+270G>C
XR_002957309.1:n.1173G>C
XR_002957310.1:n.1109-251G>C
XR_002957311.1:n.1173G>C
XR_002957312.1:n.1108+270G>C