Canonical Allele Identifier: CA6600636
Community Standard Title: NM_020547.3(AMHR2):c.1510C>T (p.Arg504Cys)
Gene: AMHR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.53431261C>T , CM000674.2:g.53431261C>T GRCh38
NC_000012.11:g.53825045C>T , CM000674.1:g.53825045C>T GRCh37
NC_000012.10:g.52111312C>T NCBI36
NG_015981.1:g.12407C>T

Transcript Alleles

HGVS Amino-acid Change
NM_020547.3:c.1510C>T MANE Select NP_065434.1:p.Arg504Cys
ENST00000257863.9:c.1510C>T MANE Select ENSP00000257863.3:p.Arg504Cys
NM_001164690.1:c.*69C>T NP_001158162.1:n.*69C>T
NM_001164690.2:c.*69C>T NP_001158162.1:n.*69C>T
NM_001164691.1:c.1225C>T NP_001158163.1:p.Arg409Cys
NM_001164691.2:c.1225C>T NP_001158163.1:p.Arg409Cys
NM_020547.2:c.1510C>T NP_065434.1:p.Arg504Cys
ENST00000257863.8:c.1510C>T ENSP00000257863.3:p.Arg504Cys
ENST00000379791.7:c.1225C>T ENSP00000369117.3:p.Arg409Cys
ENST00000550311.5:c.*69C>T ENSP00000446661.1:n.*69C>T
ENST00000552233.5:n.2159C>T
XM_011538173.1:c.1570C>T XP_011536475.1:p.Arg524Cys
XM_011538174.1:c.1567C>T XP_011536476.1:p.Arg523Cys
XM_011538175.1:c.1552C>T XP_011536477.1:p.Arg518Cys
XM_011538176.1:c.1513C>T XP_011536478.1:p.Arg505Cys
XM_011538177.1:c.1492C>T XP_011536479.1:p.Arg498Cys
XM_011538178.1:c.1351C>T XP_011536480.1:p.Arg451Cys
XM_011538179.1:c.1285C>T XP_011536481.1:p.Arg429Cys
XM_011538180.1:c.1237C>T XP_011536482.1:p.Arg413Cys
XM_011538181.1:c.1234C>T XP_011536483.1:p.Arg412Cys
XM_011538182.1:c.1159C>T XP_011536484.1:p.Arg387Cys
XM_011538183.1:c.*69C>T XP_011536485.1:n.*69C>T
XM_011538183.2:c.*69C>T XP_011536485.1:n.*69C>T
XM_011538184.1:c.*69C>T XP_011536486.1:n.*69C>T
XM_011538184.2:c.*69C>T XP_011536486.1:n.*69C>T
XM_011538185.1:c.940C>T XP_011536487.1:p.Arg314Cys
XM_011538186.1:c.685C>T XP_011536488.1:p.Arg229Cys
XM_011538186.3:c.685C>T XP_011536488.1:p.Arg229Cys
XM_017019179.2:c.*77C>T XP_016874668.1:n.*77C>T
XM_024448938.1:c.1228C>T XP_024304706.1:p.Arg410Cys
XR_002957309.1:n.1478C>T
XR_002957310.1:n.1330C>T
XR_002957311.1:n.1341C>T
XR_002957312.1:n.1193C>T