Canonical Allele Identifier: CA727980977

Gene: ADAP2

Linked Data

• dbSNP Id: rs1347018750
• gnomAD v3: 17-30956688-C-T
• gnomAD v4: 17-30956688-C-T
• MyVariant Identifiers: chr17:g.29283706C>T (hg19) ; chr17:g.30956688C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30956688C>T , CM000679.2:g.30956688C>T	GRCh38
NC_000017.10:g.29283706C>T , CM000679.1:g.29283706C>T	GRCh37
NC_000017.9:g.26307832C>T	NCBI36
NG_051975.1:g.39953C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330889.8:c.1111+219C>T MANE Select	ENSP00000329468.3:n.1111+219C>T
ENST00000330889.7:c.1111+219C>T	ENSP00000329468.3:n.1111+219C>T
ENST00000470962.1:n.531+219C>T
ENST00000480980.1:n.764C>T
ENST00000580525.5:c.1129+219C>T	ENSP00000464121.1:n.1129+219C>T
ENST00000584828.5:c.402+297C>T
ENST00000585130.5:c.*710+219C>T	ENSP00000464120.1:n.*710+219C>T
NM_018404.2:c.1111+219C>T	NP_060874.1:n.1111+219C>T
XM_005258008.2:c.1129+219C>T	XP_005258065.1:n.1129+219C>T
XM_005258011.2:c.1066+219C>T	XP_005258068.1:n.1066+219C>T
XM_006721973.2:c.1051+297C>T	XP_006722036.1:n.1051+297C>T
XM_011524993.1:c.1126+219C>T	XP_011523295.1:n.1126+219C>T
XM_011524994.1:c.1108+219C>T	XP_011523296.1:n.1108+219C>T
NM_001346712.1:c.1129+219C>T	NP_001333641.1:n.1129+219C>T
NM_001346714.1:c.1108+219C>T	NP_001333643.1:n.1108+219C>T
NM_001346716.1:c.1033+297C>T	NP_001333645.1:n.1033+297C>T
NR_144488.1:n.1310+219C>T
XM_024450832.1:c.1126+219C>T	XP_024306600.1:n.1126+219C>T
XM_024450833.1:c.1066+219C>T	XP_024306601.1:n.1066+219C>T
XM_024450834.1:c.1051+297C>T	XP_024306602.1:n.1051+297C>T
XM_024450835.1:c.745+219C>T	XP_024306603.1:n.745+219C>T
NM_018404.3:c.1111+219C>T MANE Select	NP_060874.1:n.1111+219C>T
NM_001346712.2:c.1129+219C>T	NP_001333641.1:n.1129+219C>T
NM_001346714.2:c.1108+219C>T	NP_001333643.1:n.1108+219C>T
NM_001346716.2:c.1033+297C>T	NP_001333645.1:n.1033+297C>T
NR_144488.2:n.1101+219C>T