Canonical Allele Identifier: CA367035510

Gene: PALS2

Linked Data

• dbSNP Id: rs1787000068
• MyVariant Identifiers: chr7:g.24705673A>G (hg19) ; chr7:g.24666054A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.24666054A>G , CM000669.2:g.24666054A>G	GRCh38
NC_000007.13:g.24705673A>G , CM000669.1:g.24705673A>G	GRCh37
NC_000007.12:g.24672198A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222644.10:c.917A>G MANE Select	ENSP00000222644.4:p.Lys306Arg
ENST00000222644.9:c.917A>G	ENSP00000222644.4:p.Lys306Arg
ENST00000396475.6:c.917A>G	ENSP00000379737.2:p.Lys306Arg
ENST00000409761.5:c.581A>G	ENSP00000386262.1:p.Lys194Arg
ENST00000430180.5:c.917A>G	ENSP00000391020.1:p.Lys306Arg
ENST00000464384.2:c.39A>G
NM_001303037.1:c.917A>G	NP_001289966.1:p.Lys306Arg
NM_016447.3:c.917A>G	NP_057531.2:p.Lys306Arg
XM_005249775.3:c.581A>G	XP_005249832.1:p.Lys194Arg
XM_006715738.2:c.917A>G	XP_006715801.1:p.Lys306Arg
XM_006715739.2:c.917A>G	XP_006715802.1:p.Lys306Arg
XM_006715740.2:c.917A>G	XP_006715803.1:p.Lys306Arg
XM_011515425.1:c.917A>G	XP_011513727.1:p.Lys306Arg
XM_005249775.5:c.581A>G	XP_005249832.1:p.Lys194Arg
XM_006715738.3:c.917A>G	XP_006715801.1:p.Lys306Arg
XM_006715739.3:c.917A>G	XP_006715802.1:p.Lys306Arg
XM_006715740.3:c.917A>G	XP_006715803.1:p.Lys306Arg
XM_011515425.2:c.917A>G	XP_011513727.1:p.Lys306Arg
XM_017012315.1:c.917A>G	XP_016867804.1:p.Lys306Arg
XM_017012316.2:c.917A>G	XP_016867805.1:p.Lys306Arg
XM_017012317.1:c.917A>G	XP_016867806.1:p.Lys306Arg
NM_001303037.2:c.917A>G MANE Select	NP_001289966.1:p.Lys306Arg
NM_016447.4:c.917A>G	NP_057531.2:p.Lys306Arg