Canonical Allele Identifier: CA499227472

Gene: ADAP2

Linked Data

• dbSNP Id: rs1441823111
• gnomAD v2: 17-29283486-T-G
• gnomAD v4: 17-30956468-T-G
• MyVariant Identifiers: chr17:g.29283486T>G (hg19) ; chr17:g.30956468T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30956468T>G , CM000679.2:g.30956468T>G	GRCh38
NC_000017.10:g.29283486T>G , CM000679.1:g.29283486T>G	GRCh37
NC_000017.9:g.26307612T>G	NCBI36
NG_051975.1:g.39733T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330889.8:c.1110T>G MANE Select	ENSP00000329468.3:p.Leu370=
ENST00000330889.7:c.1110T>G	ENSP00000329468.3:p.Leu370=
ENST00000470962.1:n.530T>G
ENST00000480980.1:n.544T>G
ENST00000580525.5:c.1128T>G	ENSP00000464121.1:p.Leu376=
ENST00000584828.5:c.402+77T>G
ENST00000585130.5:c.*709T>G	ENSP00000464120.1:n.*709T>G
NM_018404.2:c.1110T>G	NP_060874.1:p.Leu370=
XM_005258008.2:c.1128T>G	XP_005258065.1:p.Leu376=
XM_005258011.2:c.1065T>G	XP_005258068.1:p.Leu355=
XM_006721973.2:c.1051+77T>G	XP_006722036.1:n.1051+77T>G
XM_011524993.1:c.1125T>G	XP_011523295.1:p.Leu375=
XM_011524994.1:c.1107T>G	XP_011523296.1:p.Leu369=
NM_001346712.1:c.1128T>G	NP_001333641.1:p.Leu376=
NM_001346714.1:c.1107T>G	NP_001333643.1:p.Leu369=
NM_001346716.1:c.1033+77T>G	NP_001333645.1:n.1033+77T>G
NR_144488.1:n.1309T>G
XM_024450831.1:c.1110T>G	XP_024306599.1:p.Leu370=
XM_024450832.1:c.1125T>G	XP_024306600.1:p.Leu375=
XM_024450833.1:c.1065T>G	XP_024306601.1:p.Leu355=
XM_024450834.1:c.1051+77T>G	XP_024306602.1:n.1051+77T>G
XM_024450835.1:c.744T>G	XP_024306603.1:p.Leu248=
NM_018404.3:c.1110T>G MANE Select	NP_060874.1:p.Leu370=
NM_001346712.2:c.1128T>G	NP_001333641.1:p.Leu376=
NM_001346714.2:c.1107T>G	NP_001333643.1:p.Leu369=
NM_001346716.2:c.1033+77T>G	NP_001333645.1:n.1033+77T>G
NR_144488.2:n.1100T>G