Canonical Allele Identifier: CA2512057383

Gene: PHACTR2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.143640494G>T , CM000668.2:g.143640494G>T	GRCh38
NC_000006.11:g.143961631G>T , CM000668.1:g.143961631G>T	GRCh37
NC_000006.10:g.144003324G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305766.10:c.13+32172G>T	ENSP00000305530.6:n.13+32172G>T
ENST00000367584.8:c.218-71522G>T	ENSP00000356556.4:n.218-71522G>T
ENST00000427704.6:c.13+32172G>T	ENSP00000391763.2:n.13+32172G>T
NM_001100166.1:c.13+32172G>T	NP_001093636.1:n.13+32172G>T
NM_014721.2:c.13+32172G>T	NP_055536.2:n.13+32172G>T
NM_001100166.2:c.13+32172G>T	NP_001093636.1:n.13+32172G>T
NM_014721.3:c.13+32172G>T	NP_055536.2:n.13+32172G>T
NM_001394736.1:c.218-71522G>T	NP_001381665.1:n.218-71522G>T
NM_001394738.1:c.13+32172G>T	NP_001381667.1:n.13+32172G>T
NR_172204.1:n.143+32172G>T