Canonical Allele Identifier: CA398979523

Gene: ADAP2

Linked Data

• dbSNP Id: rs1385108915
• MyVariant Identifiers: chr17:g.29283448G>T (hg19) ; chr17:g.30956430G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30956430G>T , CM000679.2:g.30956430G>T	GRCh38
NC_000017.10:g.29283448G>T , CM000679.1:g.29283448G>T	GRCh37
NC_000017.9:g.26307574G>T	NCBI36
NG_051975.1:g.39695G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330889.8:c.1072G>T MANE Select	ENSP00000329468.3:p.Gly358Cys
ENST00000330889.7:c.1072G>T	ENSP00000329468.3:p.Gly358Cys
ENST00000470962.1:n.492G>T
ENST00000480980.1:n.506G>T
ENST00000580525.5:c.1090G>T	ENSP00000464121.1:p.Gly364Cys
ENST00000581285.5:c.988G>T	ENSP00000464155.1:p.Gly330Cys
ENST00000584828.5:c.402+39G>T
ENST00000585130.5:c.*671G>T	ENSP00000464120.1:n.*671G>T
NM_018404.2:c.1072G>T	NP_060874.1:p.Gly358Cys
XM_005258008.2:c.1090G>T	XP_005258065.1:p.Gly364Cys
XM_005258011.2:c.1027G>T	XP_005258068.1:p.Gly343Cys
XM_006721973.2:c.1051+39G>T	XP_006722036.1:n.1051+39G>T
XM_011524993.1:c.1087G>T	XP_011523295.1:p.Gly363Cys
XM_011524994.1:c.1069G>T	XP_011523296.1:p.Gly357Cys
NM_001346712.1:c.1090G>T	NP_001333641.1:p.Gly364Cys
NM_001346714.1:c.1069G>T	NP_001333643.1:p.Gly357Cys
NM_001346716.1:c.1033+39G>T	NP_001333645.1:n.1033+39G>T
NR_144488.1:n.1271G>T
XM_024450831.1:c.1072G>T	XP_024306599.1:p.Gly358Cys
XM_024450832.1:c.1087G>T	XP_024306600.1:p.Gly363Cys
XM_024450833.1:c.1027G>T	XP_024306601.1:p.Gly343Cys
XM_024450834.1:c.1051+39G>T	XP_024306602.1:n.1051+39G>T
XM_024450835.1:c.706G>T	XP_024306603.1:p.Gly236Cys
NM_018404.3:c.1072G>T MANE Select	NP_060874.1:p.Gly358Cys
NM_001346712.2:c.1090G>T	NP_001333641.1:p.Gly364Cys
NM_001346714.2:c.1069G>T	NP_001333643.1:p.Gly357Cys
NM_001346716.2:c.1033+39G>T	NP_001333645.1:n.1033+39G>T
NR_144488.2:n.1062G>T