Canonical Allele Identifier: CA149793024

Gene: PHACTR2

Linked Data

• dbSNP Id: rs201664301
• gnomAD v3: 6-143640516-G-A
• gnomAD v4: 6-143640516-G-A
• MyVariant Identifiers: chr6:g.143961653G>A (hg19) ; chr6:g.143640516G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.143640516G>A , CM000668.2:g.143640516G>A	GRCh38
NC_000006.11:g.143961653G>A , CM000668.1:g.143961653G>A	GRCh37
NC_000006.10:g.144003346G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305766.10:c.13+32194G>A	ENSP00000305530.6:n.13+32194G>A
ENST00000367584.8:c.218-71500G>A	ENSP00000356556.4:n.218-71500G>A
ENST00000427704.6:c.13+32194G>A	ENSP00000391763.2:n.13+32194G>A
NM_001100166.1:c.13+32194G>A	NP_001093636.1:n.13+32194G>A
NM_014721.2:c.13+32194G>A	NP_055536.2:n.13+32194G>A
NM_001100166.2:c.13+32194G>A	NP_001093636.1:n.13+32194G>A
NM_014721.3:c.13+32194G>A	NP_055536.2:n.13+32194G>A
NM_001394736.1:c.218-71500G>A	NP_001381665.1:n.218-71500G>A
NM_001394738.1:c.13+32194G>A	NP_001381667.1:n.13+32194G>A
NR_172204.1:n.143+32194G>A