Canonical Allele Identifier: CA6600497
Community Standard Title: NM_020547.3(AMHR2):c.994C>T (p.Arg332Ter)
Gene: AMHR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.53429479C>T , CM000674.2:g.53429479C>T GRCh38
NC_000012.11:g.53823263C>T , CM000674.1:g.53823263C>T GRCh37
NC_000012.10:g.52109530C>T NCBI36
NG_015981.1:g.10625C>T

Transcript Alleles

HGVS Amino-acid Change
NM_020547.3:c.994C>T MANE Select NP_065434.1:p.Arg332Ter
ENST00000257863.9:c.994C>T MANE Select ENSP00000257863.3:p.Arg332Ter
NM_001164690.1:c.994C>T NP_001158162.1:p.Arg332Ter
NM_001164690.2:c.994C>T NP_001158162.1:p.Arg332Ter
NM_001164691.1:c.994C>T NP_001158163.1:p.Arg332Ter
NM_001164691.2:c.994C>T NP_001158163.1:p.Arg332Ter
NM_020547.2:c.994C>T NP_065434.1:p.Arg332Ter
ENST00000257863.8:c.994C>T ENSP00000257863.3:p.Arg332Ter
ENST00000379791.7:c.994C>T ENSP00000369117.3:p.Arg332Ter
ENST00000550311.5:c.994C>T ENSP00000446661.1:p.Arg332Ter
ENST00000550839.1:c.85C>T ENSP00000455338.1:p.Arg29Ter
ENST00000552233.5:n.377C>T
XM_011538173.1:c.1054C>T XP_011536475.1:p.Arg352Ter
XM_011538174.1:c.1051C>T XP_011536476.1:p.Arg351Ter
XM_011538175.1:c.1036C>T XP_011536477.1:p.Arg346Ter
XM_011538176.1:c.997C>T XP_011536478.1:p.Arg333Ter
XM_011538177.1:c.976C>T XP_011536479.1:p.Arg326Ter
XM_011538178.1:c.835C>T XP_011536480.1:p.Arg279Ter
XM_011538179.1:c.1054C>T XP_011536481.1:p.Arg352Ter
XM_011538180.1:c.721C>T XP_011536482.1:p.Arg241Ter
XM_011538181.1:c.718C>T XP_011536483.1:p.Arg240Ter
XM_011538182.1:c.643C>T XP_011536484.1:p.Arg215Ter
XM_011538183.1:c.1054C>T XP_011536485.1:p.Arg352Ter
XM_011538183.2:c.1054C>T XP_011536485.1:p.Arg352Ter
XM_011538184.1:c.1054C>T XP_011536486.1:p.Arg352Ter
XM_011538184.2:c.1054C>T XP_011536486.1:p.Arg352Ter
XM_011538185.1:c.856-1698C>T XP_011536487.1:n.856-1698C>T
XM_011538186.1:c.169C>T XP_011536488.1:p.Arg57Ter
XM_011538186.3:c.169C>T XP_011536488.1:p.Arg57Ter
XM_011538187.1:c.882C>T XP_011536489.1:p.Thr294=
XM_017019179.2:c.1054C>T XP_016874668.1:p.Arg352Ter
XM_024448938.1:c.997C>T XP_024304706.1:p.Arg333Ter
XR_002957309.1:n.962C>T
XR_002957310.1:n.962C>T
XR_002957311.1:n.962C>T
XR_002957312.1:n.962C>T