Canonical Allele Identifier: CA499226449
Gene: ADAP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.29283372T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30956354T>C , CM000679.2:g.30956354T>C GRCh38
NC_000017.10:g.29283372T>C , CM000679.1:g.29283372T>C GRCh37
NC_000017.9:g.26307498T>C NCBI36
NG_051975.1:g.39619T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000330889.8:c.996T>C MANE Select ENSP00000329468.3:p.Ile332=
ENST00000330889.7:c.996T>C ENSP00000329468.3:p.Ile332=
ENST00000470962.1:n.416T>C
ENST00000480980.1:n.430T>C
ENST00000580525.5:c.1014T>C ENSP00000464121.1:p.Ile338=
ENST00000581285.5:c.912T>C ENSP00000464155.1:p.Ile304=
ENST00000584828.5:c.365T>C
ENST00000584989.1:c.288T>C ENSP00000462634.1:p.Ile96=
ENST00000585130.5:c.*595T>C ENSP00000464120.1:n.*595T>C
NM_018404.2:c.996T>C NP_060874.1:p.Ile332=
XM_005258008.2:c.1014T>C XP_005258065.1:p.Ile338=
XM_005258011.2:c.951T>C XP_005258068.1:p.Ile317=
XM_006721973.2:c.1014T>C XP_006722036.1:p.Ile338=
XM_011524993.1:c.1011T>C XP_011523295.1:p.Ile337=
XM_011524994.1:c.993T>C XP_011523296.1:p.Ile331=
NM_001346712.1:c.1014T>C NP_001333641.1:p.Ile338=
NM_001346714.1:c.993T>C NP_001333643.1:p.Ile331=
NM_001346716.1:c.996T>C NP_001333645.1:p.Ile332=
NR_144488.1:n.1195T>C
XM_024450831.1:c.996T>C XP_024306599.1:p.Ile332=
XM_024450832.1:c.1011T>C XP_024306600.1:p.Ile337=
XM_024450833.1:c.951T>C XP_024306601.1:p.Ile317=
XM_024450834.1:c.1014T>C XP_024306602.1:p.Ile338=
XM_024450835.1:c.630T>C XP_024306603.1:p.Ile210=
NM_018404.3:c.996T>C MANE Select NP_060874.1:p.Ile332=
NM_001346712.2:c.1014T>C NP_001333641.1:p.Ile338=
NM_001346714.2:c.993T>C NP_001333643.1:p.Ile331=
NM_001346716.2:c.996T>C NP_001333645.1:p.Ile332=
NR_144488.2:n.986T>C