Canonical Allele Identifier: CA385095415

Gene: AMHR2

Linked Data

• dbSNP Id: rs1460537370
• gnomAD v2: 12-53823720-C-T
• gnomAD v4: 12-53429936-C-T
• MyVariant Identifiers: chr12:g.53823720C>T (hg19) ; chr12:g.53429936C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53429936C>T , CM000674.2:g.53429936C>T	GRCh38
NC_000012.11:g.53823720C>T , CM000674.1:g.53823720C>T	GRCh37
NC_000012.10:g.52109987C>T	NCBI36
NG_015981.1:g.11082C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257863.9:c.1246C>T MANE Select	ENSP00000257863.3:p.Leu416Phe
ENST00000257863.8:c.1246C>T	ENSP00000257863.3:p.Leu416Phe
ENST00000379791.7:c.1140+311C>T	ENSP00000369117.3:n.1140+311C>T
ENST00000550311.5:c.1246C>T	ENSP00000446661.1:p.Leu416Phe
ENST00000550839.1:c.337C>T	ENSP00000455338.1:p.Leu113Phe
ENST00000552233.5:n.834C>T
NM_001164690.1:c.1246C>T	NP_001158162.1:p.Leu416Phe
NM_001164691.1:c.1140+311C>T	NP_001158163.1:n.1140+311C>T
NM_020547.2:c.1246C>T	NP_065434.1:p.Leu416Phe
XM_011538173.1:c.1306C>T	XP_011536475.1:p.Leu436Phe
XM_011538174.1:c.1303C>T	XP_011536476.1:p.Leu435Phe
XM_011538175.1:c.1288C>T	XP_011536477.1:p.Leu430Phe
XM_011538176.1:c.1249C>T	XP_011536478.1:p.Leu417Phe
XM_011538177.1:c.1228C>T	XP_011536479.1:p.Leu410Phe
XM_011538178.1:c.1087C>T	XP_011536480.1:p.Leu363Phe
XM_011538179.1:c.1200+311C>T	XP_011536481.1:n.1200+311C>T
XM_011538180.1:c.973C>T	XP_011536482.1:p.Leu325Phe
XM_011538181.1:c.970C>T	XP_011536483.1:p.Leu324Phe
XM_011538182.1:c.895C>T	XP_011536484.1:p.Leu299Phe
XM_011538183.1:c.1201-210C>T	XP_011536485.1:n.1201-210C>T
XM_011538184.1:c.1220+291C>T	XP_011536486.1:n.1220+291C>T
XM_011538185.1:c.856-1241C>T	XP_011536487.1:n.856-1241C>T
XM_011538186.1:c.421C>T	XP_011536488.1:p.Leu141Phe
NM_001164690.2:c.1246C>T	NP_001158162.1:p.Leu416Phe
NM_001164691.2:c.1140+311C>T	NP_001158163.1:n.1140+311C>T
NM_020547.3:c.1246C>T MANE Select	NP_065434.1:p.Leu416Phe
XM_011538183.2:c.1201-210C>T	XP_011536485.1:n.1201-210C>T
XM_011538184.2:c.1220+291C>T	XP_011536486.1:n.1220+291C>T
XM_011538186.3:c.421C>T	XP_011536488.1:p.Leu141Phe
XM_017019179.2:c.1306C>T	XP_016874668.1:p.Leu436Phe
XM_024448938.1:c.1143+311C>T	XP_024304706.1:n.1143+311C>T
XR_002957309.1:n.1214C>T
XR_002957310.1:n.1109-210C>T
XR_002957311.1:n.1214C>T
XR_002957312.1:n.1108+311C>T