Canonical Allele Identifier: CA398979377

Gene: ADAP2

Linked Data

• MyVariant Identifiers: chr17:g.29283406C>G (hg19) ; chr17:g.30956388C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30956388C>G , CM000679.2:g.30956388C>G	GRCh38
NC_000017.10:g.29283406C>G , CM000679.1:g.29283406C>G	GRCh37
NC_000017.9:g.26307532C>G	NCBI36
NG_051975.1:g.39653C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330889.8:c.1030C>G MANE Select	ENSP00000329468.3:p.Pro344Ala
ENST00000330889.7:c.1030C>G	ENSP00000329468.3:p.Pro344Ala
ENST00000470962.1:n.450C>G
ENST00000480980.1:n.464C>G
ENST00000580525.5:c.1048C>G	ENSP00000464121.1:p.Pro350Ala
ENST00000581285.5:c.946C>G	ENSP00000464155.1:p.Pro316Ala
ENST00000584828.5:c.399C>G
ENST00000585130.5:c.*629C>G	ENSP00000464120.1:n.*629C>G
NM_018404.2:c.1030C>G	NP_060874.1:p.Pro344Ala
XM_005258008.2:c.1048C>G	XP_005258065.1:p.Pro350Ala
XM_005258011.2:c.985C>G	XP_005258068.1:p.Pro329Ala
XM_006721973.2:c.1048C>G	XP_006722036.1:p.Pro350Ala
XM_011524993.1:c.1045C>G	XP_011523295.1:p.Pro349Ala
XM_011524994.1:c.1027C>G	XP_011523296.1:p.Pro343Ala
NM_001346712.1:c.1048C>G	NP_001333641.1:p.Pro350Ala
NM_001346714.1:c.1027C>G	NP_001333643.1:p.Pro343Ala
NM_001346716.1:c.1030C>G	NP_001333645.1:p.Pro344Ala
NR_144488.1:n.1229C>G
XM_024450831.1:c.1030C>G	XP_024306599.1:p.Pro344Ala
XM_024450832.1:c.1045C>G	XP_024306600.1:p.Pro349Ala
XM_024450833.1:c.985C>G	XP_024306601.1:p.Pro329Ala
XM_024450834.1:c.1048C>G	XP_024306602.1:p.Pro350Ala
XM_024450835.1:c.664C>G	XP_024306603.1:p.Pro222Ala
NM_018404.3:c.1030C>G MANE Select	NP_060874.1:p.Pro344Ala
NM_001346712.2:c.1048C>G	NP_001333641.1:p.Pro350Ala
NM_001346714.2:c.1027C>G	NP_001333643.1:p.Pro343Ala
NM_001346716.2:c.1030C>G	NP_001333645.1:p.Pro344Ala
NR_144488.2:n.1020C>G