Canonical Allele Identifier: CA385095371

Gene: AMHR2

Linked Data

• MyVariant Identifiers: chr12:g.53823709C>A (hg19) ; chr12:g.53429925C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53429925C>A , CM000674.2:g.53429925C>A	GRCh38
NC_000012.11:g.53823709C>A , CM000674.1:g.53823709C>A	GRCh37
NC_000012.10:g.52109976C>A	NCBI36
NG_015981.1:g.11071C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257863.9:c.1235C>A MANE Select	ENSP00000257863.3:p.Ser412Tyr
ENST00000257863.8:c.1235C>A	ENSP00000257863.3:p.Ser412Tyr
ENST00000379791.7:c.1140+300C>A	ENSP00000369117.3:n.1140+300C>A
ENST00000550311.5:c.1235C>A	ENSP00000446661.1:p.Ser412Tyr
ENST00000550839.1:c.326C>A	ENSP00000455338.1:p.Ser109Tyr
ENST00000552233.5:n.823C>A
NM_001164690.1:c.1235C>A	NP_001158162.1:p.Ser412Tyr
NM_001164691.1:c.1140+300C>A	NP_001158163.1:n.1140+300C>A
NM_020547.2:c.1235C>A	NP_065434.1:p.Ser412Tyr
XM_011538173.1:c.1295C>A	XP_011536475.1:p.Ser432Tyr
XM_011538174.1:c.1292C>A	XP_011536476.1:p.Ser431Tyr
XM_011538175.1:c.1277C>A	XP_011536477.1:p.Ser426Tyr
XM_011538176.1:c.1238C>A	XP_011536478.1:p.Ser413Tyr
XM_011538177.1:c.1217C>A	XP_011536479.1:p.Ser406Tyr
XM_011538178.1:c.1076C>A	XP_011536480.1:p.Ser359Tyr
XM_011538179.1:c.1200+300C>A	XP_011536481.1:n.1200+300C>A
XM_011538180.1:c.962C>A	XP_011536482.1:p.Ser321Tyr
XM_011538181.1:c.959C>A	XP_011536483.1:p.Ser320Tyr
XM_011538182.1:c.884C>A	XP_011536484.1:p.Ser295Tyr
XM_011538183.1:c.1201-221C>A	XP_011536485.1:n.1201-221C>A
XM_011538184.1:c.1220+280C>A	XP_011536486.1:n.1220+280C>A
XM_011538185.1:c.856-1252C>A	XP_011536487.1:n.856-1252C>A
XM_011538186.1:c.410C>A	XP_011536488.1:p.Ser137Tyr
NM_001164690.2:c.1235C>A	NP_001158162.1:p.Ser412Tyr
NM_001164691.2:c.1140+300C>A	NP_001158163.1:n.1140+300C>A
NM_020547.3:c.1235C>A MANE Select	NP_065434.1:p.Ser412Tyr
XM_011538183.2:c.1201-221C>A	XP_011536485.1:n.1201-221C>A
XM_011538184.2:c.1220+280C>A	XP_011536486.1:n.1220+280C>A
XM_011538186.3:c.410C>A	XP_011536488.1:p.Ser137Tyr
XM_017019179.2:c.1295C>A	XP_016874668.1:p.Ser432Tyr
XM_024448938.1:c.1143+300C>A	XP_024304706.1:n.1143+300C>A
XR_002957309.1:n.1203C>A
XR_002957310.1:n.1109-221C>A
XR_002957311.1:n.1203C>A
XR_002957312.1:n.1108+300C>A