Canonical Allele Identifier: CA15434742

Gene: PHACTR2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.143758717A>G , CM000668.2:g.143758717A>G	GRCh38
NC_000006.11:g.144079854A>G , CM000668.1:g.144079854A>G	GRCh37
NC_000006.10:g.144121547A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440869.7:c.455-1684A>G MANE Select	ENSP00000417038.2:n.455-1684A>G
ENST00000305766.10:c.421+4805A>G	ENSP00000305530.6:n.421+4805A>G
ENST00000367582.7:c.454+4805A>G	ENSP00000356554.3:n.454+4805A>G
ENST00000367584.8:c.625+4805A>G	ENSP00000356556.4:n.625+4805A>G
ENST00000420771.2:n.297+4805A>G
ENST00000427704.6:c.422-1684A>G	ENSP00000391763.2:n.422-1684A>G
ENST00000440869.6:c.455-1684A>G	ENSP00000417038.2:n.455-1684A>G
ENST00000451827.6:c.296-6544A>G	ENSP00000402449.2:n.296-6544A>G
ENST00000542769.5:c.286+4805A>G	ENSP00000442153.1:n.286+4805A>G
NM_001100164.1:c.455-1684A>G	NP_001093634.1:n.455-1684A>G
NM_001100165.1:c.454+4805A>G	NP_001093635.1:n.454+4805A>G
NM_001100166.1:c.421+4805A>G	NP_001093636.1:n.421+4805A>G
NM_014721.2:c.422-1684A>G	NP_055536.2:n.422-1684A>G
NM_001100164.2:c.455-1684A>G MANE Select	NP_001093634.1:n.455-1684A>G
NM_001100165.2:c.454+4805A>G	NP_001093635.1:n.454+4805A>G
NM_001100166.2:c.421+4805A>G	NP_001093636.1:n.421+4805A>G
NM_014721.3:c.422-1684A>G	NP_055536.2:n.422-1684A>G
NM_001394736.1:c.625+4805A>G	NP_001381665.1:n.625+4805A>G
NM_001394738.1:c.263-6544A>G	NP_001381667.1:n.263-6544A>G
NR_172204.1:n.551+4805A>G
NR_172205.1:n.654-1684A>G