Canonical Allele Identifier: CA289356529

Gene: ADAP2

Linked Data

• dbSNP Id: rs929483649
• gnomAD v2: 17-29283388-A-G
• gnomAD v4: 17-30956370-A-G
• MyVariant Identifiers: chr17:g.29283388A>G (hg19) ; chr17:g.30956370A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30956370A>G , CM000679.2:g.30956370A>G	GRCh38
NC_000017.10:g.29283388A>G , CM000679.1:g.29283388A>G	GRCh37
NC_000017.9:g.26307514A>G	NCBI36
NG_051975.1:g.39635A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330889.8:c.1012A>G MANE Select	ENSP00000329468.3:p.Arg338Gly
ENST00000330889.7:c.1012A>G	ENSP00000329468.3:p.Arg338Gly
ENST00000470962.1:n.432A>G
ENST00000480980.1:n.446A>G
ENST00000580525.5:c.1030A>G	ENSP00000464121.1:p.Arg344Gly
ENST00000581285.5:c.928A>G	ENSP00000464155.1:p.Arg310Gly
ENST00000584828.5:c.381A>G
ENST00000585130.5:c.*611A>G	ENSP00000464120.1:n.*611A>G
NM_018404.2:c.1012A>G	NP_060874.1:p.Arg338Gly
XM_005258008.2:c.1030A>G	XP_005258065.1:p.Arg344Gly
XM_005258011.2:c.967A>G	XP_005258068.1:p.Arg323Gly
XM_006721973.2:c.1030A>G	XP_006722036.1:p.Arg344Gly
XM_011524993.1:c.1027A>G	XP_011523295.1:p.Arg343Gly
XM_011524994.1:c.1009A>G	XP_011523296.1:p.Arg337Gly
NM_001346712.1:c.1030A>G	NP_001333641.1:p.Arg344Gly
NM_001346714.1:c.1009A>G	NP_001333643.1:p.Arg337Gly
NM_001346716.1:c.1012A>G	NP_001333645.1:p.Arg338Gly
NR_144488.1:n.1211A>G
XM_024450831.1:c.1012A>G	XP_024306599.1:p.Arg338Gly
XM_024450832.1:c.1027A>G	XP_024306600.1:p.Arg343Gly
XM_024450833.1:c.967A>G	XP_024306601.1:p.Arg323Gly
XM_024450834.1:c.1030A>G	XP_024306602.1:p.Arg344Gly
XM_024450835.1:c.646A>G	XP_024306603.1:p.Arg216Gly
NM_018404.3:c.1012A>G MANE Select	NP_060874.1:p.Arg338Gly
NM_001346712.2:c.1030A>G	NP_001333641.1:p.Arg344Gly
NM_001346714.2:c.1009A>G	NP_001333643.1:p.Arg337Gly
NM_001346716.2:c.1012A>G	NP_001333645.1:p.Arg338Gly
NR_144488.2:n.1002A>G