Canonical Allele Identifier: CA398979631

Gene: ADAP2

Linked Data

• dbSNP Id: rs1905081323
• gnomAD v4: 17-30956457-C-T
• MyVariant Identifiers: chr17:g.29283475C>T (hg19) ; chr17:g.30956457C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30956457C>T , CM000679.2:g.30956457C>T	GRCh38
NC_000017.10:g.29283475C>T , CM000679.1:g.29283475C>T	GRCh37
NC_000017.9:g.26307601C>T	NCBI36
NG_051975.1:g.39722C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330889.8:c.1099C>T MANE Select	ENSP00000329468.3:p.Leu367Phe
ENST00000330889.7:c.1099C>T	ENSP00000329468.3:p.Leu367Phe
ENST00000470962.1:n.519C>T
ENST00000480980.1:n.533C>T
ENST00000580525.5:c.1117C>T	ENSP00000464121.1:p.Leu373Phe
ENST00000584828.5:c.402+66C>T
ENST00000585130.5:c.*698C>T	ENSP00000464120.1:n.*698C>T
NM_018404.2:c.1099C>T	NP_060874.1:p.Leu367Phe
XM_005258008.2:c.1117C>T	XP_005258065.1:p.Leu373Phe
XM_005258011.2:c.1054C>T	XP_005258068.1:p.Leu352Phe
XM_006721973.2:c.1051+66C>T	XP_006722036.1:n.1051+66C>T
XM_011524993.1:c.1114C>T	XP_011523295.1:p.Leu372Phe
XM_011524994.1:c.1096C>T	XP_011523296.1:p.Leu366Phe
NM_001346712.1:c.1117C>T	NP_001333641.1:p.Leu373Phe
NM_001346714.1:c.1096C>T	NP_001333643.1:p.Leu366Phe
NM_001346716.1:c.1033+66C>T	NP_001333645.1:n.1033+66C>T
NR_144488.1:n.1298C>T
XM_024450831.1:c.1099C>T	XP_024306599.1:p.Leu367Phe
XM_024450832.1:c.1114C>T	XP_024306600.1:p.Leu372Phe
XM_024450833.1:c.1054C>T	XP_024306601.1:p.Leu352Phe
XM_024450834.1:c.1051+66C>T	XP_024306602.1:n.1051+66C>T
XM_024450835.1:c.733C>T	XP_024306603.1:p.Leu245Phe
NM_018404.3:c.1099C>T MANE Select	NP_060874.1:p.Leu367Phe
NM_001346712.2:c.1117C>T	NP_001333641.1:p.Leu373Phe
NM_001346714.2:c.1096C>T	NP_001333643.1:p.Leu366Phe
NM_001346716.2:c.1033+66C>T	NP_001333645.1:n.1033+66C>T
NR_144488.2:n.1089C>T