Canonical Allele Identifier: CA149793016

Gene: PHACTR2

Linked Data

• dbSNP Id: rs1018994116
• gnomAD v2: 6-143961609-C-T
• gnomAD v3: 6-143640472-C-T
• gnomAD v4: 6-143640472-C-T
• MyVariant Identifiers: chr6:g.143961609C>T (hg19) ; chr6:g.143640472C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.143640472C>T , CM000668.2:g.143640472C>T	GRCh38
NC_000006.11:g.143961609C>T , CM000668.1:g.143961609C>T	GRCh37
NC_000006.10:g.144003302C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000305766.10:c.13+32150C>T	ENSP00000305530.6:n.13+32150C>T
ENST00000367584.8:c.218-71544C>T	ENSP00000356556.4:n.218-71544C>T
ENST00000427704.6:c.13+32150C>T	ENSP00000391763.2:n.13+32150C>T
NM_001100166.1:c.13+32150C>T	NP_001093636.1:n.13+32150C>T
NM_014721.2:c.13+32150C>T	NP_055536.2:n.13+32150C>T
NM_001100166.2:c.13+32150C>T	NP_001093636.1:n.13+32150C>T
NM_014721.3:c.13+32150C>T	NP_055536.2:n.13+32150C>T
NM_001394736.1:c.218-71544C>T	NP_001381665.1:n.218-71544C>T
NM_001394738.1:c.13+32150C>T	NP_001381667.1:n.13+32150C>T
NR_172204.1:n.143+32150C>T