Canonical Allele Identifier: CA398979048

Gene: ADAP2

Linked Data

• gnomAD v4: 17-30956283-C-T
• MyVariant Identifiers: chr17:g.29283301C>T (hg19) ; chr17:g.30956283C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30956283C>T , CM000679.2:g.30956283C>T	GRCh38
NC_000017.10:g.29283301C>T , CM000679.1:g.29283301C>T	GRCh37
NC_000017.9:g.26307427C>T	NCBI36
NG_051975.1:g.39548C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330889.8:c.925C>T MANE Select	ENSP00000329468.3:p.Gln309Ter
ENST00000330889.7:c.925C>T	ENSP00000329468.3:p.Gln309Ter
ENST00000470962.1:n.345C>T
ENST00000480980.1:n.359C>T
ENST00000580525.5:c.943C>T	ENSP00000464121.1:p.Gln315Ter
ENST00000581285.5:c.841C>T	ENSP00000464155.1:p.Gln281Ter
ENST00000584828.5:c.294C>T
ENST00000584989.1:c.217C>T	ENSP00000462634.1:p.Gln73Ter
ENST00000585130.5:c.*524C>T	ENSP00000464120.1:n.*524C>T
NM_018404.2:c.925C>T	NP_060874.1:p.Gln309Ter
XM_005258008.2:c.943C>T	XP_005258065.1:p.Gln315Ter
XM_005258011.2:c.880C>T	XP_005258068.1:p.Gln294Ter
XM_006721973.2:c.943C>T	XP_006722036.1:p.Gln315Ter
XM_011524993.1:c.940C>T	XP_011523295.1:p.Gln314Ter
XM_011524994.1:c.922C>T	XP_011523296.1:p.Gln308Ter
NM_001346712.1:c.943C>T	NP_001333641.1:p.Gln315Ter
NM_001346714.1:c.922C>T	NP_001333643.1:p.Gln308Ter
NM_001346716.1:c.925C>T	NP_001333645.1:p.Gln309Ter
NR_144488.1:n.1124C>T
XM_024450831.1:c.925C>T	XP_024306599.1:p.Gln309Ter
XM_024450832.1:c.940C>T	XP_024306600.1:p.Gln314Ter
XM_024450833.1:c.880C>T	XP_024306601.1:p.Gln294Ter
XM_024450834.1:c.943C>T	XP_024306602.1:p.Gln315Ter
XM_024450835.1:c.559C>T	XP_024306603.1:p.Gln187Ter
NM_018404.3:c.925C>T MANE Select	NP_060874.1:p.Gln309Ter
NM_001346712.2:c.943C>T	NP_001333641.1:p.Gln315Ter
NM_001346714.2:c.922C>T	NP_001333643.1:p.Gln308Ter
NM_001346716.2:c.925C>T	NP_001333645.1:p.Gln309Ter
NR_144488.2:n.915C>T