Canonical Allele Identifier: CA2022446

Gene: COL5A2

Linked Data

• dbSNP Id: rs765785677
• ExAC: 2:189923604 G / A
• gnomAD v2: 2-189923604-G-A
• gnomAD v4: 2-189058878-G-A
• MyVariant Identifiers: chr2:g.189923604G>A (hg19) ; chr2:g.189058878G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189058878G>A , CM000664.2:g.189058878G>A	GRCh38
NC_000002.11:g.189923604G>A , CM000664.1:g.189923604G>A	GRCh37
NC_000002.10:g.189631849G>A	NCBI36
NG_011799.1:g.126002C>T
NG_011799.2:g.126002C>T
NG_011799.3:g.171424C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.2101C>T MANE Select	ENSP00000364000.3:p.Pro701Ser
ENST00000374866.7:c.2101C>T	ENSP00000364000.3:p.Pro701Ser
ENST00000470524.2:n.207C>T
ENST00000618828.1:c.940C>T	ENSP00000482184.1:p.Pro314Ser
NM_000393.3:c.2101C>T	NP_000384.2:p.Pro701Ser
XM_011510573.1:c.1963C>T	XP_011508875.1:p.Pro655Ser
NM_000393.4:c.2101C>T	NP_000384.2:p.Pro701Ser
XM_011510573.3:c.1963C>T	XP_011508875.1:p.Pro655Ser
NM_000393.5:c.2101C>T MANE Select	NP_000384.2:p.Pro701Ser