Canonical Allele Identifier: CA398979357

Gene: ADAP2

Linked Data

• dbSNP Id: rs1262655289
• gnomAD v2: 17-29283401-C-A
• gnomAD v4: 17-30956383-C-A
• MyVariant Identifiers: chr17:g.29283401C>A (hg19) ; chr17:g.30956383C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30956383C>A , CM000679.2:g.30956383C>A	GRCh38
NC_000017.10:g.29283401C>A , CM000679.1:g.29283401C>A	GRCh37
NC_000017.9:g.26307527C>A	NCBI36
NG_051975.1:g.39648C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330889.8:c.1025C>A MANE Select	ENSP00000329468.3:p.Thr342Asn
ENST00000330889.7:c.1025C>A	ENSP00000329468.3:p.Thr342Asn
ENST00000470962.1:n.445C>A
ENST00000480980.1:n.459C>A
ENST00000580525.5:c.1043C>A	ENSP00000464121.1:p.Thr348Asn
ENST00000581285.5:c.941C>A	ENSP00000464155.1:p.Thr314Asn
ENST00000584828.5:c.394C>A
ENST00000585130.5:c.*624C>A	ENSP00000464120.1:n.*624C>A
NM_018404.2:c.1025C>A	NP_060874.1:p.Thr342Asn
XM_005258008.2:c.1043C>A	XP_005258065.1:p.Thr348Asn
XM_005258011.2:c.980C>A	XP_005258068.1:p.Thr327Asn
XM_006721973.2:c.1043C>A	XP_006722036.1:p.Thr348Asn
XM_011524993.1:c.1040C>A	XP_011523295.1:p.Thr347Asn
XM_011524994.1:c.1022C>A	XP_011523296.1:p.Thr341Asn
NM_001346712.1:c.1043C>A	NP_001333641.1:p.Thr348Asn
NM_001346714.1:c.1022C>A	NP_001333643.1:p.Thr341Asn
NM_001346716.1:c.1025C>A	NP_001333645.1:p.Thr342Asn
NR_144488.1:n.1224C>A
XM_024450831.1:c.1025C>A	XP_024306599.1:p.Thr342Asn
XM_024450832.1:c.1040C>A	XP_024306600.1:p.Thr347Asn
XM_024450833.1:c.980C>A	XP_024306601.1:p.Thr327Asn
XM_024450834.1:c.1043C>A	XP_024306602.1:p.Thr348Asn
XM_024450835.1:c.659C>A	XP_024306603.1:p.Thr220Asn
NM_018404.3:c.1025C>A MANE Select	NP_060874.1:p.Thr342Asn
NM_001346712.2:c.1043C>A	NP_001333641.1:p.Thr348Asn
NM_001346714.2:c.1022C>A	NP_001333643.1:p.Thr341Asn
NM_001346716.2:c.1025C>A	NP_001333645.1:p.Thr342Asn
NR_144488.2:n.1015C>A