Canonical Allele Identifier: CA385095571

Gene: AMHR2

Linked Data

• MyVariant Identifiers: chr12:g.53823755G>C (hg19) ; chr12:g.53429971G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53429971G>C , CM000674.2:g.53429971G>C	GRCh38
NC_000012.11:g.53823755G>C , CM000674.1:g.53823755G>C	GRCh37
NC_000012.10:g.52110022G>C	NCBI36
NG_015981.1:g.11117G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257863.9:c.1281G>C MANE Select	ENSP00000257863.3:p.Leu427Phe
ENST00000257863.8:c.1281G>C	ENSP00000257863.3:p.Leu427Phe
ENST00000379791.7:c.1140+346G>C	ENSP00000369117.3:n.1140+346G>C
ENST00000550311.5:c.1281G>C	ENSP00000446661.1:p.Leu427Phe
ENST00000550839.1:c.372G>C	ENSP00000455338.1:p.Leu124Phe
ENST00000552233.5:n.869G>C
NM_001164690.1:c.1281G>C	NP_001158162.1:p.Leu427Phe
NM_001164691.1:c.1140+346G>C	NP_001158163.1:n.1140+346G>C
NM_020547.2:c.1281G>C	NP_065434.1:p.Leu427Phe
XM_011538173.1:c.1341G>C	XP_011536475.1:p.Leu447Phe
XM_011538174.1:c.1338G>C	XP_011536476.1:p.Leu446Phe
XM_011538175.1:c.1323G>C	XP_011536477.1:p.Leu441Phe
XM_011538176.1:c.1284G>C	XP_011536478.1:p.Leu428Phe
XM_011538177.1:c.1263G>C	XP_011536479.1:p.Leu421Phe
XM_011538178.1:c.1122G>C	XP_011536480.1:p.Leu374Phe
XM_011538179.1:c.1200+346G>C	XP_011536481.1:n.1200+346G>C
XM_011538180.1:c.1008G>C	XP_011536482.1:p.Leu336Phe
XM_011538181.1:c.1005G>C	XP_011536483.1:p.Leu335Phe
XM_011538182.1:c.930G>C	XP_011536484.1:p.Leu310Phe
XM_011538183.1:c.1201-175G>C	XP_011536485.1:n.1201-175G>C
XM_011538184.1:c.1220+326G>C	XP_011536486.1:n.1220+326G>C
XM_011538185.1:c.856-1206G>C	XP_011536487.1:n.856-1206G>C
XM_011538186.1:c.456G>C	XP_011536488.1:p.Leu152Phe
NM_001164690.2:c.1281G>C	NP_001158162.1:p.Leu427Phe
NM_001164691.2:c.1140+346G>C	NP_001158163.1:n.1140+346G>C
NM_020547.3:c.1281G>C MANE Select	NP_065434.1:p.Leu427Phe
XM_011538183.2:c.1201-175G>C	XP_011536485.1:n.1201-175G>C
XM_011538184.2:c.1220+326G>C	XP_011536486.1:n.1220+326G>C
XM_011538186.3:c.456G>C	XP_011536488.1:p.Leu152Phe
XM_017019179.2:c.1341G>C	XP_016874668.1:p.Leu447Phe
XM_024448938.1:c.1143+346G>C	XP_024304706.1:n.1143+346G>C
XR_002957309.1:n.1249G>C
XR_002957310.1:n.1109-175G>C
XR_002957311.1:n.1249G>C
XR_002957312.1:n.1108+346G>C