Canonical Allele Identifier: CA499227437
Gene: ADAP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.29283480C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30956462C>T , CM000679.2:g.30956462C>T GRCh38
NC_000017.10:g.29283480C>T , CM000679.1:g.29283480C>T GRCh37
NC_000017.9:g.26307606C>T NCBI36
NG_051975.1:g.39727C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000330889.8:c.1104C>T MANE Select ENSP00000329468.3:p.Asn368=
ENST00000330889.7:c.1104C>T ENSP00000329468.3:p.Asn368=
ENST00000470962.1:n.524C>T
ENST00000480980.1:n.538C>T
ENST00000580525.5:c.1122C>T ENSP00000464121.1:p.Asn374=
ENST00000584828.5:c.402+71C>T
ENST00000585130.5:c.*703C>T ENSP00000464120.1:n.*703C>T
NM_018404.2:c.1104C>T NP_060874.1:p.Asn368=
XM_005258008.2:c.1122C>T XP_005258065.1:p.Asn374=
XM_005258011.2:c.1059C>T XP_005258068.1:p.Asn353=
XM_006721973.2:c.1051+71C>T XP_006722036.1:n.1051+71C>T
XM_011524993.1:c.1119C>T XP_011523295.1:p.Asn373=
XM_011524994.1:c.1101C>T XP_011523296.1:p.Asn367=
NM_001346712.1:c.1122C>T NP_001333641.1:p.Asn374=
NM_001346714.1:c.1101C>T NP_001333643.1:p.Asn367=
NM_001346716.1:c.1033+71C>T NP_001333645.1:n.1033+71C>T
NR_144488.1:n.1303C>T
XM_024450831.1:c.1104C>T XP_024306599.1:p.Asn368=
XM_024450832.1:c.1119C>T XP_024306600.1:p.Asn373=
XM_024450833.1:c.1059C>T XP_024306601.1:p.Asn353=
XM_024450834.1:c.1051+71C>T XP_024306602.1:n.1051+71C>T
XM_024450835.1:c.738C>T XP_024306603.1:p.Asn246=
NM_018404.3:c.1104C>T MANE Select NP_060874.1:p.Asn368=
NM_001346712.2:c.1122C>T NP_001333641.1:p.Asn374=
NM_001346714.2:c.1101C>T NP_001333643.1:p.Asn367=
NM_001346716.2:c.1033+71C>T NP_001333645.1:n.1033+71C>T
NR_144488.2:n.1094C>T