Canonical Allele Identifier: CA237380543

Gene: AMHR2

Linked Data

• dbSNP Id: rs922556196
• gnomAD v4: 12-53429838-C-G
• MyVariant Identifiers: chr12:g.53823622C>G (hg19) ; chr12:g.53429838C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53429838C>G , CM000674.2:g.53429838C>G	GRCh38
NC_000012.11:g.53823622C>G , CM000674.1:g.53823622C>G	GRCh37
NC_000012.10:g.52109889C>G	NCBI36
NG_015981.1:g.10984C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257863.9:c.1148C>G MANE Select	ENSP00000257863.3:p.Thr383Ser
ENST00000257863.8:c.1148C>G	ENSP00000257863.3:p.Thr383Ser
ENST00000379791.7:c.1140+213C>G	ENSP00000369117.3:n.1140+213C>G
ENST00000550311.5:c.1148C>G	ENSP00000446661.1:p.Thr383Ser
ENST00000550839.1:c.239C>G	ENSP00000455338.1:p.Thr80Ser
ENST00000552233.5:n.736C>G
NM_001164690.1:c.1148C>G	NP_001158162.1:p.Thr383Ser
NM_001164691.1:c.1140+213C>G	NP_001158163.1:n.1140+213C>G
NM_020547.2:c.1148C>G	NP_065434.1:p.Thr383Ser
XM_011538173.1:c.1208C>G	XP_011536475.1:p.Thr403Ser
XM_011538174.1:c.1205C>G	XP_011536476.1:p.Thr402Ser
XM_011538175.1:c.1190C>G	XP_011536477.1:p.Thr397Ser
XM_011538176.1:c.1151C>G	XP_011536478.1:p.Thr384Ser
XM_011538177.1:c.1130C>G	XP_011536479.1:p.Thr377Ser
XM_011538178.1:c.989C>G	XP_011536480.1:p.Thr330Ser
XM_011538179.1:c.1200+213C>G	XP_011536481.1:n.1200+213C>G
XM_011538180.1:c.875C>G	XP_011536482.1:p.Thr292Ser
XM_011538181.1:c.872C>G	XP_011536483.1:p.Thr291Ser
XM_011538182.1:c.797C>G	XP_011536484.1:p.Thr266Ser
XM_011538183.1:c.1200+213C>G	XP_011536485.1:n.1200+213C>G
XM_011538184.1:c.1220+193C>G	XP_011536486.1:n.1220+193C>G
XM_011538185.1:c.856-1339C>G	XP_011536487.1:n.856-1339C>G
XM_011538186.1:c.323C>G	XP_011536488.1:p.Thr108Ser
NM_001164690.2:c.1148C>G	NP_001158162.1:p.Thr383Ser
NM_001164691.2:c.1140+213C>G	NP_001158163.1:n.1140+213C>G
NM_020547.3:c.1148C>G MANE Select	NP_065434.1:p.Thr383Ser
XM_011538183.2:c.1200+213C>G	XP_011536485.1:n.1200+213C>G
XM_011538184.2:c.1220+193C>G	XP_011536486.1:n.1220+193C>G
XM_011538186.3:c.323C>G	XP_011536488.1:p.Thr108Ser
XM_017019179.2:c.1208C>G	XP_016874668.1:p.Thr403Ser
XM_024448938.1:c.1143+213C>G	XP_024304706.1:n.1143+213C>G
XR_002957309.1:n.1116C>G
XR_002957310.1:n.1108+213C>G
XR_002957311.1:n.1116C>G
XR_002957312.1:n.1108+213C>G