Canonical Allele Identifier: CA385095010

Gene: AMHR2

Linked Data

• dbSNP Id: rs1205076584
• gnomAD v3: 12-53429840-C-T
• gnomAD v4: 12-53429840-C-T
• MyVariant Identifiers: chr12:g.53823624C>T (hg19) ; chr12:g.53429840C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53429840C>T , CM000674.2:g.53429840C>T	GRCh38
NC_000012.11:g.53823624C>T , CM000674.1:g.53823624C>T	GRCh37
NC_000012.10:g.52109891C>T	NCBI36
NG_015981.1:g.10986C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257863.9:c.1150C>T MANE Select	ENSP00000257863.3:p.Gln384Ter
ENST00000257863.8:c.1150C>T	ENSP00000257863.3:p.Gln384Ter
ENST00000379791.7:c.1140+215C>T	ENSP00000369117.3:n.1140+215C>T
ENST00000550311.5:c.1150C>T	ENSP00000446661.1:p.Gln384Ter
ENST00000550839.1:c.241C>T	ENSP00000455338.1:p.Gln81Ter
ENST00000552233.5:n.738C>T
NM_001164690.1:c.1150C>T	NP_001158162.1:p.Gln384Ter
NM_001164691.1:c.1140+215C>T	NP_001158163.1:n.1140+215C>T
NM_020547.2:c.1150C>T	NP_065434.1:p.Gln384Ter
XM_011538173.1:c.1210C>T	XP_011536475.1:p.Gln404Ter
XM_011538174.1:c.1207C>T	XP_011536476.1:p.Gln403Ter
XM_011538175.1:c.1192C>T	XP_011536477.1:p.Gln398Ter
XM_011538176.1:c.1153C>T	XP_011536478.1:p.Gln385Ter
XM_011538177.1:c.1132C>T	XP_011536479.1:p.Gln378Ter
XM_011538178.1:c.991C>T	XP_011536480.1:p.Gln331Ter
XM_011538179.1:c.1200+215C>T	XP_011536481.1:n.1200+215C>T
XM_011538180.1:c.877C>T	XP_011536482.1:p.Gln293Ter
XM_011538181.1:c.874C>T	XP_011536483.1:p.Gln292Ter
XM_011538182.1:c.799C>T	XP_011536484.1:p.Gln267Ter
XM_011538183.1:c.1200+215C>T	XP_011536485.1:n.1200+215C>T
XM_011538184.1:c.1220+195C>T	XP_011536486.1:n.1220+195C>T
XM_011538185.1:c.856-1337C>T	XP_011536487.1:n.856-1337C>T
XM_011538186.1:c.325C>T	XP_011536488.1:p.Gln109Ter
NM_001164690.2:c.1150C>T	NP_001158162.1:p.Gln384Ter
NM_001164691.2:c.1140+215C>T	NP_001158163.1:n.1140+215C>T
NM_020547.3:c.1150C>T MANE Select	NP_065434.1:p.Gln384Ter
XM_011538183.2:c.1200+215C>T	XP_011536485.1:n.1200+215C>T
XM_011538184.2:c.1220+195C>T	XP_011536486.1:n.1220+195C>T
XM_011538186.3:c.325C>T	XP_011536488.1:p.Gln109Ter
XM_017019179.2:c.1210C>T	XP_016874668.1:p.Gln404Ter
XM_024448938.1:c.1143+215C>T	XP_024304706.1:n.1143+215C>T
XR_002957309.1:n.1118C>T
XR_002957310.1:n.1108+215C>T
XR_002957311.1:n.1118C>T
XR_002957312.1:n.1108+215C>T