Canonical Allele Identifier: CA398979445

Gene: ADAP2

Linked Data

• gnomAD v4: 17-30956404-A-T
• MyVariant Identifiers: chr17:g.29283422A>T (hg19) ; chr17:g.30956404A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30956404A>T , CM000679.2:g.30956404A>T	GRCh38
NC_000017.10:g.29283422A>T , CM000679.1:g.29283422A>T	GRCh37
NC_000017.9:g.26307548A>T	NCBI36
NG_051975.1:g.39669A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330889.8:c.1046A>T MANE Select	ENSP00000329468.3:p.Gln349Leu
ENST00000330889.7:c.1046A>T	ENSP00000329468.3:p.Gln349Leu
ENST00000470962.1:n.466A>T
ENST00000480980.1:n.480A>T
ENST00000580525.5:c.1064A>T	ENSP00000464121.1:p.Gln355Leu
ENST00000581285.5:c.962A>T	ENSP00000464155.1:p.Gln321Leu
ENST00000584828.5:c.402+13A>T
ENST00000585130.5:c.*645A>T	ENSP00000464120.1:n.*645A>T
NM_018404.2:c.1046A>T	NP_060874.1:p.Gln349Leu
XM_005258008.2:c.1064A>T	XP_005258065.1:p.Gln355Leu
XM_005258011.2:c.1001A>T	XP_005258068.1:p.Gln334Leu
XM_006721973.2:c.1051+13A>T	XP_006722036.1:n.1051+13A>T
XM_011524993.1:c.1061A>T	XP_011523295.1:p.Gln354Leu
XM_011524994.1:c.1043A>T	XP_011523296.1:p.Gln348Leu
NM_001346712.1:c.1064A>T	NP_001333641.1:p.Gln355Leu
NM_001346714.1:c.1043A>T	NP_001333643.1:p.Gln348Leu
NM_001346716.1:c.1033+13A>T	NP_001333645.1:n.1033+13A>T
NR_144488.1:n.1245A>T
XM_024450831.1:c.1046A>T	XP_024306599.1:p.Gln349Leu
XM_024450832.1:c.1061A>T	XP_024306600.1:p.Gln354Leu
XM_024450833.1:c.1001A>T	XP_024306601.1:p.Gln334Leu
XM_024450834.1:c.1051+13A>T	XP_024306602.1:n.1051+13A>T
XM_024450835.1:c.680A>T	XP_024306603.1:p.Gln227Leu
NM_018404.3:c.1046A>T MANE Select	NP_060874.1:p.Gln349Leu
NM_001346712.2:c.1064A>T	NP_001333641.1:p.Gln355Leu
NM_001346714.2:c.1043A>T	NP_001333643.1:p.Gln348Leu
NM_001346716.2:c.1033+13A>T	NP_001333645.1:n.1033+13A>T
NR_144488.2:n.1036A>T