Canonical Allele Identifier: CA232322

Gene: ADAP2

Linked Data

• ClinVar Variation Id: 91999
• ClinVar RCV Id: RCV000122556
• dbSNP Id: rs201148730
• gnomAD v2: 17-29283481-C-T
• gnomAD v3: 17-30956463-C-T
• gnomAD v4: 17-30956463-C-T
• MyVariant Identifiers: chr17:g.29283481C>T (hg19) ; chr17:g.30956463C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30956463C>T , CM000679.2:g.30956463C>T	GRCh38
NC_000017.10:g.29283481C>T , CM000679.1:g.29283481C>T	GRCh37
NC_000017.9:g.26307607C>T	NCBI36
NG_051975.1:g.39728C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000330889.8:c.1105C>T MANE Select	ENSP00000329468.3:p.Arg369Trp
ENST00000330889.7:c.1105C>T	ENSP00000329468.3:p.Arg369Trp
ENST00000470962.1:n.525C>T
ENST00000480980.1:n.539C>T
ENST00000580525.5:c.1123C>T	ENSP00000464121.1:p.Arg375Trp
ENST00000584828.5:c.402+72C>T
ENST00000585130.5:c.*704C>T	ENSP00000464120.1:n.*704C>T
NM_018404.2:c.1105C>T	NP_060874.1:p.Arg369Trp
XM_005258008.2:c.1123C>T	XP_005258065.1:p.Arg375Trp
XM_005258011.2:c.1060C>T	XP_005258068.1:p.Arg354Trp
XM_006721973.2:c.1051+72C>T	XP_006722036.1:n.1051+72C>T
XM_011524993.1:c.1120C>T	XP_011523295.1:p.Arg374Trp
XM_011524994.1:c.1102C>T	XP_011523296.1:p.Arg368Trp
NM_001346712.1:c.1123C>T	NP_001333641.1:p.Arg375Trp
NM_001346714.1:c.1102C>T	NP_001333643.1:p.Arg368Trp
NM_001346716.1:c.1033+72C>T	NP_001333645.1:n.1033+72C>T
NR_144488.1:n.1304C>T
XM_024450831.1:c.1105C>T	XP_024306599.1:p.Arg369Trp
XM_024450832.1:c.1120C>T	XP_024306600.1:p.Arg374Trp
XM_024450833.1:c.1060C>T	XP_024306601.1:p.Arg354Trp
XM_024450834.1:c.1051+72C>T	XP_024306602.1:n.1051+72C>T
XM_024450835.1:c.739C>T	XP_024306603.1:p.Arg247Trp
NM_018404.3:c.1105C>T MANE Select	NP_060874.1:p.Arg369Trp
NM_001346712.2:c.1123C>T	NP_001333641.1:p.Arg375Trp
NM_001346714.2:c.1102C>T	NP_001333643.1:p.Arg368Trp
NM_001346716.2:c.1033+72C>T	NP_001333645.1:n.1033+72C>T
NR_144488.2:n.1095C>T