Canonical Allele Identifier: CA385095161

Gene: AMHR2

Linked Data

• MyVariant Identifiers: chr12:g.53823655A>C (hg19) ; chr12:g.53429871A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53429871A>C , CM000674.2:g.53429871A>C	GRCh38
NC_000012.11:g.53823655A>C , CM000674.1:g.53823655A>C	GRCh37
NC_000012.10:g.52109922A>C	NCBI36
NG_015981.1:g.11017A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257863.9:c.1181A>C MANE Select	ENSP00000257863.3:p.Lys394Thr
ENST00000257863.8:c.1181A>C	ENSP00000257863.3:p.Lys394Thr
ENST00000379791.7:c.1140+246A>C	ENSP00000369117.3:n.1140+246A>C
ENST00000550311.5:c.1181A>C	ENSP00000446661.1:p.Lys394Thr
ENST00000550839.1:c.272A>C	ENSP00000455338.1:p.Lys91Thr
ENST00000552233.5:n.769A>C
NM_001164690.1:c.1181A>C	NP_001158162.1:p.Lys394Thr
NM_001164691.1:c.1140+246A>C	NP_001158163.1:n.1140+246A>C
NM_020547.2:c.1181A>C	NP_065434.1:p.Lys394Thr
XM_011538173.1:c.1241A>C	XP_011536475.1:p.Lys414Thr
XM_011538174.1:c.1238A>C	XP_011536476.1:p.Lys413Thr
XM_011538175.1:c.1223A>C	XP_011536477.1:p.Lys408Thr
XM_011538176.1:c.1184A>C	XP_011536478.1:p.Lys395Thr
XM_011538177.1:c.1163A>C	XP_011536479.1:p.Lys388Thr
XM_011538178.1:c.1022A>C	XP_011536480.1:p.Lys341Thr
XM_011538179.1:c.1200+246A>C	XP_011536481.1:n.1200+246A>C
XM_011538180.1:c.908A>C	XP_011536482.1:p.Lys303Thr
XM_011538181.1:c.905A>C	XP_011536483.1:p.Lys302Thr
XM_011538182.1:c.830A>C	XP_011536484.1:p.Lys277Thr
XM_011538183.1:c.1200+246A>C	XP_011536485.1:n.1200+246A>C
XM_011538184.1:c.1220+226A>C	XP_011536486.1:n.1220+226A>C
XM_011538185.1:c.856-1306A>C	XP_011536487.1:n.856-1306A>C
XM_011538186.1:c.356A>C	XP_011536488.1:p.Lys119Thr
NM_001164690.2:c.1181A>C	NP_001158162.1:p.Lys394Thr
NM_001164691.2:c.1140+246A>C	NP_001158163.1:n.1140+246A>C
NM_020547.3:c.1181A>C MANE Select	NP_065434.1:p.Lys394Thr
XM_011538183.2:c.1200+246A>C	XP_011536485.1:n.1200+246A>C
XM_011538184.2:c.1220+226A>C	XP_011536486.1:n.1220+226A>C
XM_011538186.3:c.356A>C	XP_011536488.1:p.Lys119Thr
XM_017019179.2:c.1241A>C	XP_016874668.1:p.Lys414Thr
XM_024448938.1:c.1143+246A>C	XP_024304706.1:n.1143+246A>C
XR_002957309.1:n.1149A>C
XR_002957310.1:n.1108+246A>C
XR_002957311.1:n.1149A>C
XR_002957312.1:n.1108+246A>C