Canonical Allele Identifier: CA480086844
Gene: AMHR2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.53823662G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.53429878G>T , CM000674.2:g.53429878G>T GRCh38
NC_000012.11:g.53823662G>T , CM000674.1:g.53823662G>T GRCh37
NC_000012.10:g.52109929G>T NCBI36
NG_015981.1:g.11024G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000257863.9:c.1188G>T MANE Select ENSP00000257863.3:p.Leu396=
ENST00000257863.8:c.1188G>T ENSP00000257863.3:p.Leu396=
ENST00000379791.7:c.1140+253G>T ENSP00000369117.3:n.1140+253G>T
ENST00000550311.5:c.1188G>T ENSP00000446661.1:p.Leu396=
ENST00000550839.1:c.279G>T ENSP00000455338.1:p.Leu93=
ENST00000552233.5:n.776G>T
NM_001164690.1:c.1188G>T NP_001158162.1:p.Leu396=
NM_001164691.1:c.1140+253G>T NP_001158163.1:n.1140+253G>T
NM_020547.2:c.1188G>T NP_065434.1:p.Leu396=
XM_011538173.1:c.1248G>T XP_011536475.1:p.Leu416=
XM_011538174.1:c.1245G>T XP_011536476.1:p.Leu415=
XM_011538175.1:c.1230G>T XP_011536477.1:p.Leu410=
XM_011538176.1:c.1191G>T XP_011536478.1:p.Leu397=
XM_011538177.1:c.1170G>T XP_011536479.1:p.Leu390=
XM_011538178.1:c.1029G>T XP_011536480.1:p.Leu343=
XM_011538179.1:c.1200+253G>T XP_011536481.1:n.1200+253G>T
XM_011538180.1:c.915G>T XP_011536482.1:p.Leu305=
XM_011538181.1:c.912G>T XP_011536483.1:p.Leu304=
XM_011538182.1:c.837G>T XP_011536484.1:p.Leu279=
XM_011538183.1:c.1200+253G>T XP_011536485.1:n.1200+253G>T
XM_011538184.1:c.1220+233G>T XP_011536486.1:n.1220+233G>T
XM_011538185.1:c.856-1299G>T XP_011536487.1:n.856-1299G>T
XM_011538186.1:c.363G>T XP_011536488.1:p.Leu121=
NM_001164690.2:c.1188G>T NP_001158162.1:p.Leu396=
NM_001164691.2:c.1140+253G>T NP_001158163.1:n.1140+253G>T
NM_020547.3:c.1188G>T MANE Select NP_065434.1:p.Leu396=
XM_011538183.2:c.1200+253G>T XP_011536485.1:n.1200+253G>T
XM_011538184.2:c.1220+233G>T XP_011536486.1:n.1220+233G>T
XM_011538186.3:c.363G>T XP_011536488.1:p.Leu121=
XM_017019179.2:c.1248G>T XP_016874668.1:p.Leu416=
XM_024448938.1:c.1143+253G>T XP_024304706.1:n.1143+253G>T
XR_002957309.1:n.1156G>T
XR_002957310.1:n.1108+253G>T
XR_002957311.1:n.1156G>T
XR_002957312.1:n.1108+253G>T