Canonical Allele Identifier: CA6600552

Gene: AMHR2

Linked Data

• dbSNP Id: rs761052310
• ExAC: 12:53823693 C / T
• gnomAD v2: 12-53823693-C-T
• gnomAD v3: 12-53429909-C-T
• gnomAD v4: 12-53429909-C-T
• COSMIC: COSM215545
• MyVariant Identifiers: chr12:g.53823693C>T (hg19) ; chr12:g.53429909C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53429909C>T , CM000674.2:g.53429909C>T	GRCh38
NC_000012.11:g.53823693C>T , CM000674.1:g.53823693C>T	GRCh37
NC_000012.10:g.52109960C>T	NCBI36
NG_015981.1:g.11055C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000257863.9:c.1219C>T MANE Select	ENSP00000257863.3:p.Arg407Ter
ENST00000257863.8:c.1219C>T	ENSP00000257863.3:p.Arg407Ter
ENST00000379791.7:c.1140+284C>T	ENSP00000369117.3:n.1140+284C>T
ENST00000550311.5:c.1219C>T	ENSP00000446661.1:p.Arg407Ter
ENST00000550839.1:c.310C>T	ENSP00000455338.1:p.Arg104Ter
ENST00000552233.5:n.807C>T
NM_001164690.1:c.1219C>T	NP_001158162.1:p.Arg407Ter
NM_001164691.1:c.1140+284C>T	NP_001158163.1:n.1140+284C>T
NM_020547.2:c.1219C>T	NP_065434.1:p.Arg407Ter
XM_011538173.1:c.1279C>T	XP_011536475.1:p.Arg427Ter
XM_011538174.1:c.1276C>T	XP_011536476.1:p.Arg426Ter
XM_011538175.1:c.1261C>T	XP_011536477.1:p.Arg421Ter
XM_011538176.1:c.1222C>T	XP_011536478.1:p.Arg408Ter
XM_011538177.1:c.1201C>T	XP_011536479.1:p.Arg401Ter
XM_011538178.1:c.1060C>T	XP_011536480.1:p.Arg354Ter
XM_011538179.1:c.1200+284C>T	XP_011536481.1:n.1200+284C>T
XM_011538180.1:c.946C>T	XP_011536482.1:p.Arg316Ter
XM_011538181.1:c.943C>T	XP_011536483.1:p.Arg315Ter
XM_011538182.1:c.868C>T	XP_011536484.1:p.Arg290Ter
XM_011538183.1:c.1201-237C>T	XP_011536485.1:n.1201-237C>T
XM_011538184.1:c.1220+264C>T	XP_011536486.1:n.1220+264C>T
XM_011538185.1:c.856-1268C>T	XP_011536487.1:n.856-1268C>T
XM_011538186.1:c.394C>T	XP_011536488.1:p.Arg132Ter
NM_001164690.2:c.1219C>T	NP_001158162.1:p.Arg407Ter
NM_001164691.2:c.1140+284C>T	NP_001158163.1:n.1140+284C>T
NM_020547.3:c.1219C>T MANE Select	NP_065434.1:p.Arg407Ter
XM_011538183.2:c.1201-237C>T	XP_011536485.1:n.1201-237C>T
XM_011538184.2:c.1220+264C>T	XP_011536486.1:n.1220+264C>T
XM_011538186.3:c.394C>T	XP_011536488.1:p.Arg132Ter
XM_017019179.2:c.1279C>T	XP_016874668.1:p.Arg427Ter
XM_024448938.1:c.1143+284C>T	XP_024304706.1:n.1143+284C>T
XR_002957309.1:n.1187C>T
XR_002957310.1:n.1109-237C>T
XR_002957311.1:n.1187C>T
XR_002957312.1:n.1108+284C>T