Canonical Allele Identifier: CA398979009

Gene: ADAP2

Linked Data

• gnomAD v4: 17-30956266-T-C
• MyVariant Identifiers: chr17:g.29283284T>C (hg19) ; chr17:g.30956266T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30956266T>C , CM000679.2:g.30956266T>C	GRCh38
NC_000017.10:g.29283284T>C , CM000679.1:g.29283284T>C	GRCh37
NC_000017.9:g.26307410T>C	NCBI36
NG_051975.1:g.39531T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330889.8:c.908T>C MANE Select	ENSP00000329468.3:p.Phe303Ser
ENST00000330889.7:c.908T>C	ENSP00000329468.3:p.Phe303Ser
ENST00000470962.1:n.328T>C
ENST00000480980.1:n.342T>C
ENST00000580525.5:c.926T>C	ENSP00000464121.1:p.Phe309Ser
ENST00000581285.5:c.824T>C	ENSP00000464155.1:p.Phe275Ser
ENST00000584828.5:c.277T>C
ENST00000584989.1:c.200T>C	ENSP00000462634.1:p.Phe67Ser
ENST00000585130.5:c.*507T>C	ENSP00000464120.1:n.*507T>C
NM_018404.2:c.908T>C	NP_060874.1:p.Phe303Ser
XM_005258008.2:c.926T>C	XP_005258065.1:p.Phe309Ser
XM_005258011.2:c.863T>C	XP_005258068.1:p.Phe288Ser
XM_006721973.2:c.926T>C	XP_006722036.1:p.Phe309Ser
XM_011524993.1:c.923T>C	XP_011523295.1:p.Phe308Ser
XM_011524994.1:c.905T>C	XP_011523296.1:p.Phe302Ser
NM_001346712.1:c.926T>C	NP_001333641.1:p.Phe309Ser
NM_001346714.1:c.905T>C	NP_001333643.1:p.Phe302Ser
NM_001346716.1:c.908T>C	NP_001333645.1:p.Phe303Ser
NR_144488.1:n.1107T>C
XM_024450831.1:c.908T>C	XP_024306599.1:p.Phe303Ser
XM_024450832.1:c.923T>C	XP_024306600.1:p.Phe308Ser
XM_024450833.1:c.863T>C	XP_024306601.1:p.Phe288Ser
XM_024450834.1:c.926T>C	XP_024306602.1:p.Phe309Ser
XM_024450835.1:c.542T>C	XP_024306603.1:p.Phe181Ser
NM_018404.3:c.908T>C MANE Select	NP_060874.1:p.Phe303Ser
NM_001346712.2:c.926T>C	NP_001333641.1:p.Phe309Ser
NM_001346714.2:c.905T>C	NP_001333643.1:p.Phe302Ser
NM_001346716.2:c.908T>C	NP_001333645.1:p.Phe303Ser
NR_144488.2:n.898T>C