Canonical Allele Identifier: CA349866789

Gene: COL5A2

Linked Data

• ClinVar Variation Id: 2806870
• ClinVar RCV Id: RCV003760748
• MyVariant Identifiers: chr2:g.189915299G>T (hg19) ; chr2:g.189050573G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189050573G>T , CM000664.2:g.189050573G>T	GRCh38
NC_000002.11:g.189915299G>T , CM000664.1:g.189915299G>T	GRCh37
NC_000002.10:g.189623544G>T	NCBI36
NG_011799.1:g.134307C>A
NG_011799.2:g.134307C>A
NG_011799.3:g.179729C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.3035C>A MANE Select	ENSP00000364000.3:p.Pro1012Gln
ENST00000374866.7:c.3035C>A	ENSP00000364000.3:p.Pro1012Gln
ENST00000618828.1:c.1874C>A	ENSP00000482184.1:p.Pro625Gln
NM_000393.3:c.3035C>A	NP_000384.2:p.Pro1012Gln
XM_011510573.1:c.2897C>A	XP_011508875.1:p.Pro966Gln
NM_000393.4:c.3035C>A	NP_000384.2:p.Pro1012Gln
XM_011510573.3:c.2897C>A	XP_011508875.1:p.Pro966Gln
NM_000393.5:c.3035C>A MANE Select	NP_000384.2:p.Pro1012Gln