Canonical Allele Identifier: CA398979593
Gene: ADAP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30956448T>G , CM000679.2:g.30956448T>G GRCh38
NC_000017.10:g.29283466T>G , CM000679.1:g.29283466T>G GRCh37
NC_000017.9:g.26307592T>G NCBI36
NG_051975.1:g.39713T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000330889.8:c.1090T>G MANE Select ENSP00000329468.3:p.Leu364Val
ENST00000330889.7:c.1090T>G ENSP00000329468.3:p.Leu364Val
ENST00000470962.1:n.510T>G
ENST00000480980.1:n.524T>G
ENST00000580525.5:c.1108T>G ENSP00000464121.1:p.Leu370Val
ENST00000584828.5:c.402+57T>G
ENST00000585130.5:c.*689T>G ENSP00000464120.1:n.*689T>G
NM_018404.2:c.1090T>G NP_060874.1:p.Leu364Val
XM_005258008.2:c.1108T>G XP_005258065.1:p.Leu370Val
XM_005258011.2:c.1045T>G XP_005258068.1:p.Leu349Val
XM_006721973.2:c.1051+57T>G XP_006722036.1:n.1051+57T>G
XM_011524993.1:c.1105T>G XP_011523295.1:p.Leu369Val
XM_011524994.1:c.1087T>G XP_011523296.1:p.Leu363Val
NM_001346712.1:c.1108T>G NP_001333641.1:p.Leu370Val
NM_001346714.1:c.1087T>G NP_001333643.1:p.Leu363Val
NM_001346716.1:c.1033+57T>G NP_001333645.1:n.1033+57T>G
NR_144488.1:n.1289T>G
XM_024450831.1:c.1090T>G XP_024306599.1:p.Leu364Val
XM_024450832.1:c.1105T>G XP_024306600.1:p.Leu369Val
XM_024450833.1:c.1045T>G XP_024306601.1:p.Leu349Val
XM_024450834.1:c.1051+57T>G XP_024306602.1:n.1051+57T>G
XM_024450835.1:c.724T>G XP_024306603.1:p.Leu242Val
NM_018404.3:c.1090T>G MANE Select NP_060874.1:p.Leu364Val
NM_001346712.2:c.1108T>G NP_001333641.1:p.Leu370Val
NM_001346714.2:c.1087T>G NP_001333643.1:p.Leu363Val
NM_001346716.2:c.1033+57T>G NP_001333645.1:n.1033+57T>G
NR_144488.2:n.1080T>G