Canonical Allele Identifier: CA398979015

Gene: ADAP2

Linked Data

• dbSNP Id: rs1905059237
• COSMIC: COSM5385994
• MyVariant Identifiers: chr17:g.29283286C>T (hg19) ; chr17:g.30956268C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30956268C>T , CM000679.2:g.30956268C>T	GRCh38
NC_000017.10:g.29283286C>T , CM000679.1:g.29283286C>T	GRCh37
NC_000017.9:g.26307412C>T	NCBI36
NG_051975.1:g.39533C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330889.8:c.910C>T MANE Select	ENSP00000329468.3:p.Leu304Phe
ENST00000330889.7:c.910C>T	ENSP00000329468.3:p.Leu304Phe
ENST00000470962.1:n.330C>T
ENST00000480980.1:n.344C>T
ENST00000580525.5:c.928C>T	ENSP00000464121.1:p.Leu310Phe
ENST00000581285.5:c.826C>T	ENSP00000464155.1:p.Leu276Phe
ENST00000584828.5:c.279C>T
ENST00000584989.1:c.202C>T	ENSP00000462634.1:p.Leu68Phe
ENST00000585130.5:c.*509C>T	ENSP00000464120.1:n.*509C>T
NM_018404.2:c.910C>T	NP_060874.1:p.Leu304Phe
XM_005258008.2:c.928C>T	XP_005258065.1:p.Leu310Phe
XM_005258011.2:c.865C>T	XP_005258068.1:p.Leu289Phe
XM_006721973.2:c.928C>T	XP_006722036.1:p.Leu310Phe
XM_011524993.1:c.925C>T	XP_011523295.1:p.Leu309Phe
XM_011524994.1:c.907C>T	XP_011523296.1:p.Leu303Phe
NM_001346712.1:c.928C>T	NP_001333641.1:p.Leu310Phe
NM_001346714.1:c.907C>T	NP_001333643.1:p.Leu303Phe
NM_001346716.1:c.910C>T	NP_001333645.1:p.Leu304Phe
NR_144488.1:n.1109C>T
XM_024450831.1:c.910C>T	XP_024306599.1:p.Leu304Phe
XM_024450832.1:c.925C>T	XP_024306600.1:p.Leu309Phe
XM_024450833.1:c.865C>T	XP_024306601.1:p.Leu289Phe
XM_024450834.1:c.928C>T	XP_024306602.1:p.Leu310Phe
XM_024450835.1:c.544C>T	XP_024306603.1:p.Leu182Phe
NM_018404.3:c.910C>T MANE Select	NP_060874.1:p.Leu304Phe
NM_001346712.2:c.928C>T	NP_001333641.1:p.Leu310Phe
NM_001346714.2:c.907C>T	NP_001333643.1:p.Leu303Phe
NM_001346716.2:c.910C>T	NP_001333645.1:p.Leu304Phe
NR_144488.2:n.900C>T