Canonical Allele Identifier: CA289356532

Gene: ADAP2

Linked Data

• dbSNP Id: rs985081750
• gnomAD v2: 17-29283397-C-T
• gnomAD v4: 17-30956379-C-T
• MyVariant Identifiers: chr17:g.29283397C>T (hg19) ; chr17:g.30956379C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30956379C>T , CM000679.2:g.30956379C>T	GRCh38
NC_000017.10:g.29283397C>T , CM000679.1:g.29283397C>T	GRCh37
NC_000017.9:g.26307523C>T	NCBI36
NG_051975.1:g.39644C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330889.8:c.1021C>T MANE Select	ENSP00000329468.3:p.Leu341Phe
ENST00000330889.7:c.1021C>T	ENSP00000329468.3:p.Leu341Phe
ENST00000470962.1:n.441C>T
ENST00000480980.1:n.455C>T
ENST00000580525.5:c.1039C>T	ENSP00000464121.1:p.Leu347Phe
ENST00000581285.5:c.937C>T	ENSP00000464155.1:p.Leu313Phe
ENST00000584828.5:c.390C>T
ENST00000585130.5:c.*620C>T	ENSP00000464120.1:n.*620C>T
NM_018404.2:c.1021C>T	NP_060874.1:p.Leu341Phe
XM_005258008.2:c.1039C>T	XP_005258065.1:p.Leu347Phe
XM_005258011.2:c.976C>T	XP_005258068.1:p.Leu326Phe
XM_006721973.2:c.1039C>T	XP_006722036.1:p.Leu347Phe
XM_011524993.1:c.1036C>T	XP_011523295.1:p.Leu346Phe
XM_011524994.1:c.1018C>T	XP_011523296.1:p.Leu340Phe
NM_001346712.1:c.1039C>T	NP_001333641.1:p.Leu347Phe
NM_001346714.1:c.1018C>T	NP_001333643.1:p.Leu340Phe
NM_001346716.1:c.1021C>T	NP_001333645.1:p.Leu341Phe
NR_144488.1:n.1220C>T
XM_024450831.1:c.1021C>T	XP_024306599.1:p.Leu341Phe
XM_024450832.1:c.1036C>T	XP_024306600.1:p.Leu346Phe
XM_024450833.1:c.976C>T	XP_024306601.1:p.Leu326Phe
XM_024450834.1:c.1039C>T	XP_024306602.1:p.Leu347Phe
XM_024450835.1:c.655C>T	XP_024306603.1:p.Leu219Phe
NM_018404.3:c.1021C>T MANE Select	NP_060874.1:p.Leu341Phe
NM_001346712.2:c.1039C>T	NP_001333641.1:p.Leu347Phe
NM_001346714.2:c.1018C>T	NP_001333643.1:p.Leu340Phe
NM_001346716.2:c.1021C>T	NP_001333645.1:p.Leu341Phe
NR_144488.2:n.1011C>T