Canonical Allele Identifier: CA8485067

Gene: ADAP2

Linked Data

• dbSNP Id: rs754179444
• ExAC: 17:29283410 G / T
• gnomAD v2: 17-29283410-G-T
• gnomAD v3: 17-30956392-G-T
• gnomAD v4: 17-30956392-G-T
• MyVariant Identifiers: chr17:g.29283410G>T (hg19) ; chr17:g.30956392G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30956392G>T , CM000679.2:g.30956392G>T	GRCh38
NC_000017.10:g.29283410G>T , CM000679.1:g.29283410G>T	GRCh37
NC_000017.9:g.26307536G>T	NCBI36
NG_051975.1:g.39657G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330889.8:c.1034G>T MANE Select	ENSP00000329468.3:p.Ser345Ile
ENST00000330889.7:c.1034G>T	ENSP00000329468.3:p.Ser345Ile
ENST00000470962.1:n.454G>T
ENST00000480980.1:n.468G>T
ENST00000580525.5:c.1052G>T	ENSP00000464121.1:p.Ser351Ile
ENST00000581285.5:c.950G>T	ENSP00000464155.1:p.Ser317Ile
ENST00000584828.5:c.402+1G>T
ENST00000585130.5:c.*633G>T	ENSP00000464120.1:n.*633G>T
NM_018404.2:c.1034G>T	NP_060874.1:p.Ser345Ile
XM_005258008.2:c.1052G>T	XP_005258065.1:p.Ser351Ile
XM_005258011.2:c.989G>T	XP_005258068.1:p.Ser330Ile
XM_006721973.2:c.1051+1G>T	XP_006722036.1:n.1051+1G>T
XM_011524993.1:c.1049G>T	XP_011523295.1:p.Ser350Ile
XM_011524994.1:c.1031G>T	XP_011523296.1:p.Ser344Ile
NM_001346712.1:c.1052G>T	NP_001333641.1:p.Ser351Ile
NM_001346714.1:c.1031G>T	NP_001333643.1:p.Ser344Ile
NM_001346716.1:c.1033+1G>T	NP_001333645.1:n.1033+1G>T
NR_144488.1:n.1233G>T
XM_024450831.1:c.1034G>T	XP_024306599.1:p.Ser345Ile
XM_024450832.1:c.1049G>T	XP_024306600.1:p.Ser350Ile
XM_024450833.1:c.989G>T	XP_024306601.1:p.Ser330Ile
XM_024450834.1:c.1051+1G>T	XP_024306602.1:n.1051+1G>T
XM_024450835.1:c.668G>T	XP_024306603.1:p.Ser223Ile
NM_018404.3:c.1034G>T MANE Select	NP_060874.1:p.Ser345Ile
NM_001346712.2:c.1052G>T	NP_001333641.1:p.Ser351Ile
NM_001346714.2:c.1031G>T	NP_001333643.1:p.Ser344Ile
NM_001346716.2:c.1033+1G>T	NP_001333645.1:n.1033+1G>T
NR_144488.2:n.1024G>T