Canonical Allele Identifier: CA6600440
Community Standard Title: NM_020547.3(AMHR2):c.775C>T (p.Arg259Ter)
Gene: AMHR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.53425842C>T , CM000674.2:g.53425842C>T GRCh38
NC_000012.11:g.53819626C>T , CM000674.1:g.53819626C>T GRCh37
NC_000012.10:g.52105893C>T NCBI36
NG_015981.1:g.6988C>T

Transcript Alleles

HGVS Amino-acid Change
NM_020547.3:c.775C>T MANE Select NP_065434.1:p.Arg259Ter
ENST00000257863.9:c.775C>T MANE Select ENSP00000257863.3:p.Arg259Ter
NM_001164690.1:c.775C>T NP_001158162.1:p.Arg259Ter
NM_001164690.2:c.775C>T NP_001158162.1:p.Arg259Ter
NM_001164691.1:c.775C>T NP_001158163.1:p.Arg259Ter
NM_001164691.2:c.775C>T NP_001158163.1:p.Arg259Ter
NM_020547.2:c.775C>T NP_065434.1:p.Arg259Ter
ENST00000257863.8:c.775C>T ENSP00000257863.3:p.Arg259Ter
ENST00000379791.7:c.775C>T ENSP00000369117.3:p.Arg259Ter
ENST00000548303.1:n.477C>T
ENST00000550311.5:c.775C>T ENSP00000446661.1:p.Arg259Ter
ENST00000550839.1:c.-135C>T ENSP00000455338.1:n.-135C>T
ENST00000552233.5:n.273C>T
XM_011538173.1:c.778C>T XP_011536475.1:p.Arg260Ter
XM_011538174.1:c.775C>T XP_011536476.1:p.Arg259Ter
XM_011538175.1:c.760C>T XP_011536477.1:p.Arg254Ter
XM_011538176.1:c.778C>T XP_011536478.1:p.Arg260Ter
XM_011538177.1:c.700C>T XP_011536479.1:p.Arg234Ter
XM_011538178.1:c.559C>T XP_011536480.1:p.Arg187Ter
XM_011538179.1:c.778C>T XP_011536481.1:p.Arg260Ter
XM_011538180.1:c.445C>T XP_011536482.1:p.Arg149Ter
XM_011538181.1:c.442C>T XP_011536483.1:p.Arg148Ter
XM_011538182.1:c.367C>T XP_011536484.1:p.Arg123Ter
XM_011538183.1:c.778C>T XP_011536485.1:p.Arg260Ter
XM_011538183.2:c.778C>T XP_011536485.1:p.Arg260Ter
XM_011538184.1:c.778C>T XP_011536486.1:p.Arg260Ter
XM_011538184.2:c.778C>T XP_011536486.1:p.Arg260Ter
XM_011538185.1:c.778C>T XP_011536487.1:p.Arg260Ter
XM_011538186.1:c.65C>T XP_011536488.1:p.Pro22Leu
XM_011538186.3:c.65C>T XP_011536488.1:p.Pro22Leu
XM_011538187.1:c.778C>T XP_011536489.1:p.Arg260Ter
XM_017019179.2:c.778C>T XP_016874668.1:p.Arg260Ter
XM_024448938.1:c.778C>T XP_024304706.1:p.Arg260Ter
XR_002957309.1:n.858C>T
XR_002957310.1:n.858C>T
XR_002957311.1:n.858C>T
XR_002957312.1:n.858C>T