Canonical Allele Identifier: CA6600245

Gene: AMHR2

Linked Data

• ClinVar Variation Id: 434142
• ClinVar RCV Id: RCV000504416 ; RCV002527187
• dbSNP Id: rs371910684
• ExAC: 12:53818198 G / A
• gnomAD v2: 12-53818198-G-A
• gnomAD v3: 12-53424414-G-A
• gnomAD v4: 12-53424414-G-A
• MyVariant Identifiers: chr12:g.53818198G>A (hg19) ; chr12:g.53424414G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53424414G>A , CM000674.2:g.53424414G>A	GRCh38
NC_000012.11:g.53818198G>A , CM000674.1:g.53818198G>A	GRCh37
NC_000012.10:g.52104465G>A	NCBI36
NG_015981.1:g.5560G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257863.9:c.176G>A MANE Select	ENSP00000257863.3:p.Arg59His
ENST00000257863.8:c.176G>A	ENSP00000257863.3:p.Arg59His
ENST00000379791.7:c.176G>A	ENSP00000369117.3:p.Arg59His
ENST00000550311.5:c.176G>A	ENSP00000446661.1:p.Arg59His
ENST00000553037.1:n.137G>A
NM_001164690.1:c.176G>A	NP_001158162.1:p.Arg59His
NM_001164691.1:c.176G>A	NP_001158163.1:p.Arg59His
NM_020547.2:c.176G>A	NP_065434.1:p.Arg59His
XM_011538173.1:c.176G>A	XP_011536475.1:p.Arg59His
XM_011538174.1:c.176G>A	XP_011536476.1:p.Arg59His
XM_011538175.1:c.176G>A	XP_011536477.1:p.Arg59His
XM_011538176.1:c.176G>A	XP_011536478.1:p.Arg59His
XM_011538177.1:c.176G>A	XP_011536479.1:p.Arg59His
XM_011538178.1:c.176G>A	XP_011536480.1:p.Arg59His
XM_011538179.1:c.176G>A	XP_011536481.1:p.Arg59His
XM_011538180.1:c.-72G>A	XP_011536482.1:n.-72G>A
XM_011538181.1:c.-72G>A	XP_011536483.1:n.-72G>A
XM_011538182.1:c.-72G>A	XP_011536484.1:n.-72G>A
XM_011538183.1:c.176G>A	XP_011536485.1:p.Arg59His
XM_011538184.1:c.176G>A	XP_011536486.1:p.Arg59His
XM_011538185.1:c.176G>A	XP_011536487.1:p.Arg59His
XM_011538187.1:c.176G>A	XP_011536489.1:p.Arg59His
NM_001164690.2:c.176G>A	NP_001158162.1:p.Arg59His
NM_001164691.2:c.176G>A	NP_001158163.1:p.Arg59His
NM_020547.3:c.176G>A MANE Select	NP_065434.1:p.Arg59His
XM_011538183.2:c.176G>A	XP_011536485.1:p.Arg59His
XM_011538184.2:c.176G>A	XP_011536486.1:p.Arg59His
XM_017019179.2:c.176G>A	XP_016874668.1:p.Arg59His
XM_024448938.1:c.176G>A	XP_024304706.1:p.Arg59His
XR_002957309.1:n.256G>A
XR_002957310.1:n.256G>A
XR_002957311.1:n.256G>A
XR_002957312.1:n.256G>A