Canonical Allele Identifier: CA480086980
Gene: AMHR2 HGNC NCBI

Linked Data

dbSNP Id: rs1433856647

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.53429951C>T , CM000674.2:g.53429951C>T GRCh38
NC_000012.11:g.53823735C>T , CM000674.1:g.53823735C>T GRCh37
NC_000012.10:g.52110002C>T NCBI36
NG_015981.1:g.11097C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000257863.9:c.1261C>T MANE Select ENSP00000257863.3:p.Leu421=
ENST00000257863.8:c.1261C>T ENSP00000257863.3:p.Leu421=
ENST00000379791.7:c.1140+326C>T ENSP00000369117.3:n.1140+326C>T
ENST00000550311.5:c.1261C>T ENSP00000446661.1:p.Leu421=
ENST00000550839.1:c.352C>T ENSP00000455338.1:p.Leu118=
ENST00000552233.5:n.849C>T
NM_001164690.1:c.1261C>T NP_001158162.1:p.Leu421=
NM_001164691.1:c.1140+326C>T NP_001158163.1:n.1140+326C>T
NM_020547.2:c.1261C>T NP_065434.1:p.Leu421=
XM_011538173.1:c.1321C>T XP_011536475.1:p.Leu441=
XM_011538174.1:c.1318C>T XP_011536476.1:p.Leu440=
XM_011538175.1:c.1303C>T XP_011536477.1:p.Leu435=
XM_011538176.1:c.1264C>T XP_011536478.1:p.Leu422=
XM_011538177.1:c.1243C>T XP_011536479.1:p.Leu415=
XM_011538178.1:c.1102C>T XP_011536480.1:p.Leu368=
XM_011538179.1:c.1200+326C>T XP_011536481.1:n.1200+326C>T
XM_011538180.1:c.988C>T XP_011536482.1:p.Leu330=
XM_011538181.1:c.985C>T XP_011536483.1:p.Leu329=
XM_011538182.1:c.910C>T XP_011536484.1:p.Leu304=
XM_011538183.1:c.1201-195C>T XP_011536485.1:n.1201-195C>T
XM_011538184.1:c.1220+306C>T XP_011536486.1:n.1220+306C>T
XM_011538185.1:c.856-1226C>T XP_011536487.1:n.856-1226C>T
XM_011538186.1:c.436C>T XP_011536488.1:p.Leu146=
NM_001164690.2:c.1261C>T NP_001158162.1:p.Leu421=
NM_001164691.2:c.1140+326C>T NP_001158163.1:n.1140+326C>T
NM_020547.3:c.1261C>T MANE Select NP_065434.1:p.Leu421=
XM_011538183.2:c.1201-195C>T XP_011536485.1:n.1201-195C>T
XM_011538184.2:c.1220+306C>T XP_011536486.1:n.1220+306C>T
XM_011538186.3:c.436C>T XP_011536488.1:p.Leu146=
XM_017019179.2:c.1321C>T XP_016874668.1:p.Leu441=
XM_024448938.1:c.1143+326C>T XP_024304706.1:n.1143+326C>T
XR_002957309.1:n.1229C>T
XR_002957310.1:n.1109-195C>T
XR_002957311.1:n.1229C>T
XR_002957312.1:n.1108+326C>T