Canonical Allele Identifier: CA398979623

Gene: ADAP2

Linked Data

• dbSNP Id: rs1156428848
• gnomAD v4: 17-30956455-C-A
• MyVariant Identifiers: chr17:g.29283473C>A (hg19) ; chr17:g.30956455C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30956455C>A , CM000679.2:g.30956455C>A	GRCh38
NC_000017.10:g.29283473C>A , CM000679.1:g.29283473C>A	GRCh37
NC_000017.9:g.26307599C>A	NCBI36
NG_051975.1:g.39720C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330889.8:c.1097C>A MANE Select	ENSP00000329468.3:p.Pro366His
ENST00000330889.7:c.1097C>A	ENSP00000329468.3:p.Pro366His
ENST00000470962.1:n.517C>A
ENST00000480980.1:n.531C>A
ENST00000580525.5:c.1115C>A	ENSP00000464121.1:p.Pro372His
ENST00000584828.5:c.402+64C>A
ENST00000585130.5:c.*696C>A	ENSP00000464120.1:n.*696C>A
NM_018404.2:c.1097C>A	NP_060874.1:p.Pro366His
XM_005258008.2:c.1115C>A	XP_005258065.1:p.Pro372His
XM_005258011.2:c.1052C>A	XP_005258068.1:p.Pro351His
XM_006721973.2:c.1051+64C>A	XP_006722036.1:n.1051+64C>A
XM_011524993.1:c.1112C>A	XP_011523295.1:p.Pro371His
XM_011524994.1:c.1094C>A	XP_011523296.1:p.Pro365His
NM_001346712.1:c.1115C>A	NP_001333641.1:p.Pro372His
NM_001346714.1:c.1094C>A	NP_001333643.1:p.Pro365His
NM_001346716.1:c.1033+64C>A	NP_001333645.1:n.1033+64C>A
NR_144488.1:n.1296C>A
XM_024450831.1:c.1097C>A	XP_024306599.1:p.Pro366His
XM_024450832.1:c.1112C>A	XP_024306600.1:p.Pro371His
XM_024450833.1:c.1052C>A	XP_024306601.1:p.Pro351His
XM_024450834.1:c.1051+64C>A	XP_024306602.1:n.1051+64C>A
XM_024450835.1:c.731C>A	XP_024306603.1:p.Pro244His
NM_018404.3:c.1097C>A MANE Select	NP_060874.1:p.Pro366His
NM_001346712.2:c.1115C>A	NP_001333641.1:p.Pro372His
NM_001346714.2:c.1094C>A	NP_001333643.1:p.Pro365His
NM_001346716.2:c.1033+64C>A	NP_001333645.1:n.1033+64C>A
NR_144488.2:n.1087C>A