Canonical Allele Identifier: CA398978962

Gene: ADAP2

Linked Data

• dbSNP Id: rs957406369
• gnomAD v4: 17-30956245-C-G
• MyVariant Identifiers: chr17:g.29283263C>G (hg19) ; chr17:g.30956245C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30956245C>G , CM000679.2:g.30956245C>G	GRCh38
NC_000017.10:g.29283263C>G , CM000679.1:g.29283263C>G	GRCh37
NC_000017.9:g.26307389C>G	NCBI36
NG_051975.1:g.39510C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330889.8:c.887C>G MANE Select	ENSP00000329468.3:p.Ala296Gly
ENST00000330889.7:c.887C>G	ENSP00000329468.3:p.Ala296Gly
ENST00000470962.1:n.307C>G
ENST00000480980.1:n.321C>G
ENST00000580525.5:c.905C>G	ENSP00000464121.1:p.Ala302Gly
ENST00000581285.5:c.803C>G	ENSP00000464155.1:p.Ala268Gly
ENST00000584828.5:c.256C>G
ENST00000584989.1:c.179C>G	ENSP00000462634.1:p.Ala60Gly
ENST00000585130.5:c.*486C>G	ENSP00000464120.1:n.*486C>G
NM_018404.2:c.887C>G	NP_060874.1:p.Ala296Gly
XM_005258008.2:c.905C>G	XP_005258065.1:p.Ala302Gly
XM_005258011.2:c.842C>G	XP_005258068.1:p.Ala281Gly
XM_006721973.2:c.905C>G	XP_006722036.1:p.Ala302Gly
XM_011524993.1:c.902C>G	XP_011523295.1:p.Ala301Gly
XM_011524994.1:c.884C>G	XP_011523296.1:p.Ala295Gly
NM_001346712.1:c.905C>G	NP_001333641.1:p.Ala302Gly
NM_001346714.1:c.884C>G	NP_001333643.1:p.Ala295Gly
NM_001346716.1:c.887C>G	NP_001333645.1:p.Ala296Gly
NR_144488.1:n.1086C>G
XM_024450831.1:c.887C>G	XP_024306599.1:p.Ala296Gly
XM_024450832.1:c.902C>G	XP_024306600.1:p.Ala301Gly
XM_024450833.1:c.842C>G	XP_024306601.1:p.Ala281Gly
XM_024450834.1:c.905C>G	XP_024306602.1:p.Ala302Gly
XM_024450835.1:c.521C>G	XP_024306603.1:p.Ala174Gly
NM_018404.3:c.887C>G MANE Select	NP_060874.1:p.Ala296Gly
NM_001346712.2:c.905C>G	NP_001333641.1:p.Ala302Gly
NM_001346714.2:c.884C>G	NP_001333643.1:p.Ala295Gly
NM_001346716.2:c.887C>G	NP_001333645.1:p.Ala296Gly
NR_144488.2:n.877C>G