Canonical Allele Identifier: CA385095274

Gene: AMHR2

Linked Data

• dbSNP Id: rs1468171222
• MyVariant Identifiers: chr12:g.53823684G>C (hg19) ; chr12:g.53429900G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53429900G>C , CM000674.2:g.53429900G>C	GRCh38
NC_000012.11:g.53823684G>C , CM000674.1:g.53823684G>C	GRCh37
NC_000012.10:g.52109951G>C	NCBI36
NG_015981.1:g.11046G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257863.9:c.1210G>C MANE Select	ENSP00000257863.3:p.Ala404Pro
ENST00000257863.8:c.1210G>C	ENSP00000257863.3:p.Ala404Pro
ENST00000379791.7:c.1140+275G>C	ENSP00000369117.3:n.1140+275G>C
ENST00000550311.5:c.1210G>C	ENSP00000446661.1:p.Ala404Pro
ENST00000550839.1:c.301G>C	ENSP00000455338.1:p.Ala101Pro
ENST00000552233.5:n.798G>C
NM_001164690.1:c.1210G>C	NP_001158162.1:p.Ala404Pro
NM_001164691.1:c.1140+275G>C	NP_001158163.1:n.1140+275G>C
NM_020547.2:c.1210G>C	NP_065434.1:p.Ala404Pro
XM_011538173.1:c.1270G>C	XP_011536475.1:p.Ala424Pro
XM_011538174.1:c.1267G>C	XP_011536476.1:p.Ala423Pro
XM_011538175.1:c.1252G>C	XP_011536477.1:p.Ala418Pro
XM_011538176.1:c.1213G>C	XP_011536478.1:p.Ala405Pro
XM_011538177.1:c.1192G>C	XP_011536479.1:p.Ala398Pro
XM_011538178.1:c.1051G>C	XP_011536480.1:p.Ala351Pro
XM_011538179.1:c.1200+275G>C	XP_011536481.1:n.1200+275G>C
XM_011538180.1:c.937G>C	XP_011536482.1:p.Ala313Pro
XM_011538181.1:c.934G>C	XP_011536483.1:p.Ala312Pro
XM_011538182.1:c.859G>C	XP_011536484.1:p.Ala287Pro
XM_011538183.1:c.1201-246G>C	XP_011536485.1:n.1201-246G>C
XM_011538184.1:c.1220+255G>C	XP_011536486.1:n.1220+255G>C
XM_011538185.1:c.856-1277G>C	XP_011536487.1:n.856-1277G>C
XM_011538186.1:c.385G>C	XP_011536488.1:p.Ala129Pro
NM_001164690.2:c.1210G>C	NP_001158162.1:p.Ala404Pro
NM_001164691.2:c.1140+275G>C	NP_001158163.1:n.1140+275G>C
NM_020547.3:c.1210G>C MANE Select	NP_065434.1:p.Ala404Pro
XM_011538183.2:c.1201-246G>C	XP_011536485.1:n.1201-246G>C
XM_011538184.2:c.1220+255G>C	XP_011536486.1:n.1220+255G>C
XM_011538186.3:c.385G>C	XP_011536488.1:p.Ala129Pro
XM_017019179.2:c.1270G>C	XP_016874668.1:p.Ala424Pro
XM_024448938.1:c.1143+275G>C	XP_024304706.1:n.1143+275G>C
XR_002957309.1:n.1178G>C
XR_002957310.1:n.1109-246G>C
XR_002957311.1:n.1178G>C
XR_002957312.1:n.1108+275G>C