Canonical Allele Identifier: CA398979452

Gene: ADAP2

Linked Data

• MyVariant Identifiers: chr17:g.29283424C>A (hg19) ; chr17:g.30956406C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30956406C>A , CM000679.2:g.30956406C>A	GRCh38
NC_000017.10:g.29283424C>A , CM000679.1:g.29283424C>A	GRCh37
NC_000017.9:g.26307550C>A	NCBI36
NG_051975.1:g.39671C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330889.8:c.1048C>A MANE Select	ENSP00000329468.3:p.Gln350Lys
ENST00000330889.7:c.1048C>A	ENSP00000329468.3:p.Gln350Lys
ENST00000470962.1:n.468C>A
ENST00000480980.1:n.482C>A
ENST00000580525.5:c.1066C>A	ENSP00000464121.1:p.Gln356Lys
ENST00000581285.5:c.964C>A	ENSP00000464155.1:p.Gln322Lys
ENST00000584828.5:c.402+15C>A
ENST00000585130.5:c.*647C>A	ENSP00000464120.1:n.*647C>A
NM_018404.2:c.1048C>A	NP_060874.1:p.Gln350Lys
XM_005258008.2:c.1066C>A	XP_005258065.1:p.Gln356Lys
XM_005258011.2:c.1003C>A	XP_005258068.1:p.Gln335Lys
XM_006721973.2:c.1051+15C>A	XP_006722036.1:n.1051+15C>A
XM_011524993.1:c.1063C>A	XP_011523295.1:p.Gln355Lys
XM_011524994.1:c.1045C>A	XP_011523296.1:p.Gln349Lys
NM_001346712.1:c.1066C>A	NP_001333641.1:p.Gln356Lys
NM_001346714.1:c.1045C>A	NP_001333643.1:p.Gln349Lys
NM_001346716.1:c.1033+15C>A	NP_001333645.1:n.1033+15C>A
NR_144488.1:n.1247C>A
XM_024450831.1:c.1048C>A	XP_024306599.1:p.Gln350Lys
XM_024450832.1:c.1063C>A	XP_024306600.1:p.Gln355Lys
XM_024450833.1:c.1003C>A	XP_024306601.1:p.Gln335Lys
XM_024450834.1:c.1051+15C>A	XP_024306602.1:n.1051+15C>A
XM_024450835.1:c.682C>A	XP_024306603.1:p.Gln228Lys
NM_018404.3:c.1048C>A MANE Select	NP_060874.1:p.Gln350Lys
NM_001346712.2:c.1066C>A	NP_001333641.1:p.Gln356Lys
NM_001346714.2:c.1045C>A	NP_001333643.1:p.Gln349Lys
NM_001346716.2:c.1033+15C>A	NP_001333645.1:n.1033+15C>A
NR_144488.2:n.1038C>A