Canonical Allele Identifier: CA349867168

Gene: COL5A2

Linked Data

• gnomAD v4: 2-189050655-G-C
• MyVariant Identifiers: chr2:g.189915381G>C (hg19) ; chr2:g.189050655G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189050655G>C , CM000664.2:g.189050655G>C	GRCh38
NC_000002.11:g.189915381G>C , CM000664.1:g.189915381G>C	GRCh37
NC_000002.10:g.189623626G>C	NCBI36
NG_011799.1:g.134225C>G
NG_011799.2:g.134225C>G
NG_011799.3:g.179647C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.2953C>G MANE Select	ENSP00000364000.3:p.Pro985Ala
ENST00000374866.7:c.2953C>G	ENSP00000364000.3:p.Pro985Ala
ENST00000618828.1:c.1792C>G	ENSP00000482184.1:p.Pro598Ala
NM_000393.3:c.2953C>G	NP_000384.2:p.Pro985Ala
XM_011510573.1:c.2815C>G	XP_011508875.1:p.Pro939Ala
NM_000393.4:c.2953C>G	NP_000384.2:p.Pro985Ala
XM_011510573.3:c.2815C>G	XP_011508875.1:p.Pro939Ala
NM_000393.5:c.2953C>G MANE Select	NP_000384.2:p.Pro985Ala