Canonical Allele Identifier: CA349863907

Gene: COL5A2

Linked Data

• gnomAD v4: 2-189098737-G-T
• MyVariant Identifiers: chr2:g.189963463G>T (hg19) ; chr2:g.189098737G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189098737G>T , CM000664.2:g.189098737G>T	GRCh38
NC_000002.11:g.189963463G>T , CM000664.1:g.189963463G>T	GRCh37
NC_000002.10:g.189671708G>T	NCBI36
NG_011799.1:g.86143C>A
NG_011799.2:g.86143C>A
NG_011799.3:g.131565C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.392C>A MANE Select	ENSP00000364000.3:p.Pro131Gln
ENST00000649966.1:c.254C>A	ENSP00000496785.1:p.Pro85Gln
ENST00000374866.7:c.392C>A	ENSP00000364000.3:p.Pro131Gln
ENST00000618828.1:c.-239C>A	ENSP00000482184.1:n.-239C>A
NM_000393.3:c.392C>A	NP_000384.2:p.Pro131Gln
XM_011510573.1:c.254C>A	XP_011508875.1:p.Pro85Gln
NM_000393.4:c.392C>A	NP_000384.2:p.Pro131Gln
XM_011510573.3:c.254C>A	XP_011508875.1:p.Pro85Gln
NM_000393.5:c.392C>A MANE Select	NP_000384.2:p.Pro131Gln