Canonical Allele Identifier: CA385095167

Gene: AMHR2

Linked Data

• MyVariant Identifiers: chr12:g.53823656G>C (hg19) ; chr12:g.53429872G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53429872G>C , CM000674.2:g.53429872G>C	GRCh38
NC_000012.11:g.53823656G>C , CM000674.1:g.53823656G>C	GRCh37
NC_000012.10:g.52109923G>C	NCBI36
NG_015981.1:g.11018G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257863.9:c.1182G>C MANE Select	ENSP00000257863.3:p.Lys394Asn
ENST00000257863.8:c.1182G>C	ENSP00000257863.3:p.Lys394Asn
ENST00000379791.7:c.1140+247G>C	ENSP00000369117.3:n.1140+247G>C
ENST00000550311.5:c.1182G>C	ENSP00000446661.1:p.Lys394Asn
ENST00000550839.1:c.273G>C	ENSP00000455338.1:p.Lys91Asn
ENST00000552233.5:n.770G>C
NM_001164690.1:c.1182G>C	NP_001158162.1:p.Lys394Asn
NM_001164691.1:c.1140+247G>C	NP_001158163.1:n.1140+247G>C
NM_020547.2:c.1182G>C	NP_065434.1:p.Lys394Asn
XM_011538173.1:c.1242G>C	XP_011536475.1:p.Lys414Asn
XM_011538174.1:c.1239G>C	XP_011536476.1:p.Lys413Asn
XM_011538175.1:c.1224G>C	XP_011536477.1:p.Lys408Asn
XM_011538176.1:c.1185G>C	XP_011536478.1:p.Lys395Asn
XM_011538177.1:c.1164G>C	XP_011536479.1:p.Lys388Asn
XM_011538178.1:c.1023G>C	XP_011536480.1:p.Lys341Asn
XM_011538179.1:c.1200+247G>C	XP_011536481.1:n.1200+247G>C
XM_011538180.1:c.909G>C	XP_011536482.1:p.Lys303Asn
XM_011538181.1:c.906G>C	XP_011536483.1:p.Lys302Asn
XM_011538182.1:c.831G>C	XP_011536484.1:p.Lys277Asn
XM_011538183.1:c.1200+247G>C	XP_011536485.1:n.1200+247G>C
XM_011538184.1:c.1220+227G>C	XP_011536486.1:n.1220+227G>C
XM_011538185.1:c.856-1305G>C	XP_011536487.1:n.856-1305G>C
XM_011538186.1:c.357G>C	XP_011536488.1:p.Lys119Asn
NM_001164690.2:c.1182G>C	NP_001158162.1:p.Lys394Asn
NM_001164691.2:c.1140+247G>C	NP_001158163.1:n.1140+247G>C
NM_020547.3:c.1182G>C MANE Select	NP_065434.1:p.Lys394Asn
XM_011538183.2:c.1200+247G>C	XP_011536485.1:n.1200+247G>C
XM_011538184.2:c.1220+227G>C	XP_011536486.1:n.1220+227G>C
XM_011538186.3:c.357G>C	XP_011536488.1:p.Lys119Asn
XM_017019179.2:c.1242G>C	XP_016874668.1:p.Lys414Asn
XM_024448938.1:c.1143+247G>C	XP_024304706.1:n.1143+247G>C
XR_002957309.1:n.1150G>C
XR_002957310.1:n.1108+247G>C
XR_002957311.1:n.1150G>C
XR_002957312.1:n.1108+247G>C