Canonical Allele Identifier: CA6600547

Gene: AMHR2

Linked Data

• dbSNP Id: rs549871498
• ExAC: 12:53823644 G / A
• gnomAD v2: 12-53823644-G-A
• gnomAD v3: 12-53429860-G-A
• gnomAD v4: 12-53429860-G-A
• MyVariant Identifiers: chr12:g.53823644G>A (hg19) ; chr12:g.53429860G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53429860G>A , CM000674.2:g.53429860G>A	GRCh38
NC_000012.11:g.53823644G>A , CM000674.1:g.53823644G>A	GRCh37
NC_000012.10:g.52109911G>A	NCBI36
NG_015981.1:g.11006G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257863.9:c.1170G>A MANE Select	ENSP00000257863.3:p.Glu390=
ENST00000257863.8:c.1170G>A	ENSP00000257863.3:p.Glu390=
ENST00000379791.7:c.1140+235G>A	ENSP00000369117.3:n.1140+235G>A
ENST00000550311.5:c.1170G>A	ENSP00000446661.1:p.Glu390=
ENST00000550839.1:c.261G>A	ENSP00000455338.1:p.Glu87=
ENST00000552233.5:n.758G>A
NM_001164690.1:c.1170G>A	NP_001158162.1:p.Glu390=
NM_001164691.1:c.1140+235G>A	NP_001158163.1:n.1140+235G>A
NM_020547.2:c.1170G>A	NP_065434.1:p.Glu390=
XM_011538173.1:c.1230G>A	XP_011536475.1:p.Glu410=
XM_011538174.1:c.1227G>A	XP_011536476.1:p.Glu409=
XM_011538175.1:c.1212G>A	XP_011536477.1:p.Glu404=
XM_011538176.1:c.1173G>A	XP_011536478.1:p.Glu391=
XM_011538177.1:c.1152G>A	XP_011536479.1:p.Glu384=
XM_011538178.1:c.1011G>A	XP_011536480.1:p.Glu337=
XM_011538179.1:c.1200+235G>A	XP_011536481.1:n.1200+235G>A
XM_011538180.1:c.897G>A	XP_011536482.1:p.Glu299=
XM_011538181.1:c.894G>A	XP_011536483.1:p.Glu298=
XM_011538182.1:c.819G>A	XP_011536484.1:p.Glu273=
XM_011538183.1:c.1200+235G>A	XP_011536485.1:n.1200+235G>A
XM_011538184.1:c.1220+215G>A	XP_011536486.1:n.1220+215G>A
XM_011538185.1:c.856-1317G>A	XP_011536487.1:n.856-1317G>A
XM_011538186.1:c.345G>A	XP_011536488.1:p.Glu115=
NM_001164690.2:c.1170G>A	NP_001158162.1:p.Glu390=
NM_001164691.2:c.1140+235G>A	NP_001158163.1:n.1140+235G>A
NM_020547.3:c.1170G>A MANE Select	NP_065434.1:p.Glu390=
XM_011538183.2:c.1200+235G>A	XP_011536485.1:n.1200+235G>A
XM_011538184.2:c.1220+215G>A	XP_011536486.1:n.1220+215G>A
XM_011538186.3:c.345G>A	XP_011536488.1:p.Glu115=
XM_017019179.2:c.1230G>A	XP_016874668.1:p.Glu410=
XM_024448938.1:c.1143+235G>A	XP_024304706.1:n.1143+235G>A
XR_002957309.1:n.1138G>A
XR_002957310.1:n.1108+235G>A
XR_002957311.1:n.1138G>A
XR_002957312.1:n.1108+235G>A