Canonical Allele Identifier: CA398979386

Gene: ADAP2

Linked Data

• gnomAD v4: 17-30956391-A-C
• MyVariant Identifiers: chr17:g.29283409A>C (hg19) ; chr17:g.30956391A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30956391A>C , CM000679.2:g.30956391A>C	GRCh38
NC_000017.10:g.29283409A>C , CM000679.1:g.29283409A>C	GRCh37
NC_000017.9:g.26307535A>C	NCBI36
NG_051975.1:g.39656A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330889.8:c.1033A>C MANE Select	ENSP00000329468.3:p.Ser345Arg
ENST00000330889.7:c.1033A>C	ENSP00000329468.3:p.Ser345Arg
ENST00000470962.1:n.453A>C
ENST00000480980.1:n.467A>C
ENST00000580525.5:c.1051A>C	ENSP00000464121.1:p.Ser351Arg
ENST00000581285.5:c.949A>C	ENSP00000464155.1:p.Ser317Arg
ENST00000584828.5:c.402A>C
ENST00000585130.5:c.*632A>C	ENSP00000464120.1:n.*632A>C
NM_018404.2:c.1033A>C	NP_060874.1:p.Ser345Arg
XM_005258008.2:c.1051A>C	XP_005258065.1:p.Ser351Arg
XM_005258011.2:c.988A>C	XP_005258068.1:p.Ser330Arg
XM_006721973.2:c.1051A>C	XP_006722036.1:p.Thr351Pro
XM_011524993.1:c.1048A>C	XP_011523295.1:p.Ser350Arg
XM_011524994.1:c.1030A>C	XP_011523296.1:p.Ser344Arg
NM_001346712.1:c.1051A>C	NP_001333641.1:p.Ser351Arg
NM_001346714.1:c.1030A>C	NP_001333643.1:p.Ser344Arg
NM_001346716.1:c.1033A>C	NP_001333645.1:p.Thr345Pro
NR_144488.1:n.1232A>C
XM_024450831.1:c.1033A>C	XP_024306599.1:p.Ser345Arg
XM_024450832.1:c.1048A>C	XP_024306600.1:p.Ser350Arg
XM_024450833.1:c.988A>C	XP_024306601.1:p.Ser330Arg
XM_024450834.1:c.1051A>C	XP_024306602.1:p.Thr351Pro
XM_024450835.1:c.667A>C	XP_024306603.1:p.Ser223Arg
NM_018404.3:c.1033A>C MANE Select	NP_060874.1:p.Ser345Arg
NM_001346712.2:c.1051A>C	NP_001333641.1:p.Ser351Arg
NM_001346714.2:c.1030A>C	NP_001333643.1:p.Ser344Arg
NM_001346716.2:c.1033A>C	NP_001333645.1:p.Thr345Pro
NR_144488.2:n.1023A>C