Canonical Allele Identifier: CA480086950
Gene: AMHR2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.53823719G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.53429935G>T , CM000674.2:g.53429935G>T GRCh38
NC_000012.11:g.53823719G>T , CM000674.1:g.53823719G>T GRCh37
NC_000012.10:g.52109986G>T NCBI36
NG_015981.1:g.11081G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000257863.9:c.1245G>T MANE Select ENSP00000257863.3:p.Leu415=
ENST00000257863.8:c.1245G>T ENSP00000257863.3:p.Leu415=
ENST00000379791.7:c.1140+310G>T ENSP00000369117.3:n.1140+310G>T
ENST00000550311.5:c.1245G>T ENSP00000446661.1:p.Leu415=
ENST00000550839.1:c.336G>T ENSP00000455338.1:p.Leu112=
ENST00000552233.5:n.833G>T
NM_001164690.1:c.1245G>T NP_001158162.1:p.Leu415=
NM_001164691.1:c.1140+310G>T NP_001158163.1:n.1140+310G>T
NM_020547.2:c.1245G>T NP_065434.1:p.Leu415=
XM_011538173.1:c.1305G>T XP_011536475.1:p.Leu435=
XM_011538174.1:c.1302G>T XP_011536476.1:p.Leu434=
XM_011538175.1:c.1287G>T XP_011536477.1:p.Leu429=
XM_011538176.1:c.1248G>T XP_011536478.1:p.Leu416=
XM_011538177.1:c.1227G>T XP_011536479.1:p.Leu409=
XM_011538178.1:c.1086G>T XP_011536480.1:p.Leu362=
XM_011538179.1:c.1200+310G>T XP_011536481.1:n.1200+310G>T
XM_011538180.1:c.972G>T XP_011536482.1:p.Leu324=
XM_011538181.1:c.969G>T XP_011536483.1:p.Leu323=
XM_011538182.1:c.894G>T XP_011536484.1:p.Leu298=
XM_011538183.1:c.1201-211G>T XP_011536485.1:n.1201-211G>T
XM_011538184.1:c.1220+290G>T XP_011536486.1:n.1220+290G>T
XM_011538185.1:c.856-1242G>T XP_011536487.1:n.856-1242G>T
XM_011538186.1:c.420G>T XP_011536488.1:p.Leu140=
NM_001164690.2:c.1245G>T NP_001158162.1:p.Leu415=
NM_001164691.2:c.1140+310G>T NP_001158163.1:n.1140+310G>T
NM_020547.3:c.1245G>T MANE Select NP_065434.1:p.Leu415=
XM_011538183.2:c.1201-211G>T XP_011536485.1:n.1201-211G>T
XM_011538184.2:c.1220+290G>T XP_011536486.1:n.1220+290G>T
XM_011538186.3:c.420G>T XP_011536488.1:p.Leu140=
XM_017019179.2:c.1305G>T XP_016874668.1:p.Leu435=
XM_024448938.1:c.1143+310G>T XP_024304706.1:n.1143+310G>T
XR_002957309.1:n.1213G>T
XR_002957310.1:n.1109-211G>T
XR_002957311.1:n.1213G>T
XR_002957312.1:n.1108+310G>T