Canonical Allele Identifier: CA398979006

Gene: ADAP2

Linked Data

• gnomAD v4: 17-30956265-T-C
• MyVariant Identifiers: chr17:g.29283283T>C (hg19) ; chr17:g.30956265T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30956265T>C , CM000679.2:g.30956265T>C	GRCh38
NC_000017.10:g.29283283T>C , CM000679.1:g.29283283T>C	GRCh37
NC_000017.9:g.26307409T>C	NCBI36
NG_051975.1:g.39530T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330889.8:c.907T>C MANE Select	ENSP00000329468.3:p.Phe303Leu
ENST00000330889.7:c.907T>C	ENSP00000329468.3:p.Phe303Leu
ENST00000470962.1:n.327T>C
ENST00000480980.1:n.341T>C
ENST00000580525.5:c.925T>C	ENSP00000464121.1:p.Phe309Leu
ENST00000581285.5:c.823T>C	ENSP00000464155.1:p.Phe275Leu
ENST00000584828.5:c.276T>C
ENST00000584989.1:c.199T>C	ENSP00000462634.1:p.Phe67Leu
ENST00000585130.5:c.*506T>C	ENSP00000464120.1:n.*506T>C
NM_018404.2:c.907T>C	NP_060874.1:p.Phe303Leu
XM_005258008.2:c.925T>C	XP_005258065.1:p.Phe309Leu
XM_005258011.2:c.862T>C	XP_005258068.1:p.Phe288Leu
XM_006721973.2:c.925T>C	XP_006722036.1:p.Phe309Leu
XM_011524993.1:c.922T>C	XP_011523295.1:p.Phe308Leu
XM_011524994.1:c.904T>C	XP_011523296.1:p.Phe302Leu
NM_001346712.1:c.925T>C	NP_001333641.1:p.Phe309Leu
NM_001346714.1:c.904T>C	NP_001333643.1:p.Phe302Leu
NM_001346716.1:c.907T>C	NP_001333645.1:p.Phe303Leu
NR_144488.1:n.1106T>C
XM_024450831.1:c.907T>C	XP_024306599.1:p.Phe303Leu
XM_024450832.1:c.922T>C	XP_024306600.1:p.Phe308Leu
XM_024450833.1:c.862T>C	XP_024306601.1:p.Phe288Leu
XM_024450834.1:c.925T>C	XP_024306602.1:p.Phe309Leu
XM_024450835.1:c.541T>C	XP_024306603.1:p.Phe181Leu
NM_018404.3:c.907T>C MANE Select	NP_060874.1:p.Phe303Leu
NM_001346712.2:c.925T>C	NP_001333641.1:p.Phe309Leu
NM_001346714.2:c.904T>C	NP_001333643.1:p.Phe302Leu
NM_001346716.2:c.907T>C	NP_001333645.1:p.Phe303Leu
NR_144488.2:n.897T>C