Canonical Allele Identifier: CA398979037

Gene: ADAP2

Linked Data

• MyVariant Identifiers: chr17:g.29283297G>C (hg19) ; chr17:g.30956279G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30956279G>C , CM000679.2:g.30956279G>C	GRCh38
NC_000017.10:g.29283297G>C , CM000679.1:g.29283297G>C	GRCh37
NC_000017.9:g.26307423G>C	NCBI36
NG_051975.1:g.39544G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330889.8:c.921G>C MANE Select	ENSP00000329468.3:p.Lys307Asn
ENST00000330889.7:c.921G>C	ENSP00000329468.3:p.Lys307Asn
ENST00000470962.1:n.341G>C
ENST00000480980.1:n.355G>C
ENST00000580525.5:c.939G>C	ENSP00000464121.1:p.Lys313Asn
ENST00000581285.5:c.837G>C	ENSP00000464155.1:p.Lys279Asn
ENST00000584828.5:c.290G>C
ENST00000584989.1:c.213G>C	ENSP00000462634.1:p.Lys71Asn
ENST00000585130.5:c.*520G>C	ENSP00000464120.1:n.*520G>C
NM_018404.2:c.921G>C	NP_060874.1:p.Lys307Asn
XM_005258008.2:c.939G>C	XP_005258065.1:p.Lys313Asn
XM_005258011.2:c.876G>C	XP_005258068.1:p.Lys292Asn
XM_006721973.2:c.939G>C	XP_006722036.1:p.Lys313Asn
XM_011524993.1:c.936G>C	XP_011523295.1:p.Lys312Asn
XM_011524994.1:c.918G>C	XP_011523296.1:p.Lys306Asn
NM_001346712.1:c.939G>C	NP_001333641.1:p.Lys313Asn
NM_001346714.1:c.918G>C	NP_001333643.1:p.Lys306Asn
NM_001346716.1:c.921G>C	NP_001333645.1:p.Lys307Asn
NR_144488.1:n.1120G>C
XM_024450831.1:c.921G>C	XP_024306599.1:p.Lys307Asn
XM_024450832.1:c.936G>C	XP_024306600.1:p.Lys312Asn
XM_024450833.1:c.876G>C	XP_024306601.1:p.Lys292Asn
XM_024450834.1:c.939G>C	XP_024306602.1:p.Lys313Asn
XM_024450835.1:c.555G>C	XP_024306603.1:p.Lys185Asn
NM_018404.3:c.921G>C MANE Select	NP_060874.1:p.Lys307Asn
NM_001346712.2:c.939G>C	NP_001333641.1:p.Lys313Asn
NM_001346714.2:c.918G>C	NP_001333643.1:p.Lys306Asn
NM_001346716.2:c.921G>C	NP_001333645.1:p.Lys307Asn
NR_144488.2:n.911G>C