Canonical Allele Identifier: CA349866817

Gene: COL5A2

Linked Data

• dbSNP Id: rs1685763997
• gnomAD v3: 2-189050579-G-C
• gnomAD v4: 2-189050579-G-C
• MyVariant Identifiers: chr2:g.189915305G>C (hg19) ; chr2:g.189050579G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189050579G>C , CM000664.2:g.189050579G>C	GRCh38
NC_000002.11:g.189915305G>C , CM000664.1:g.189915305G>C	GRCh37
NC_000002.10:g.189623550G>C	NCBI36
NG_011799.1:g.134301C>G
NG_011799.2:g.134301C>G
NG_011799.3:g.179723C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.3029C>G MANE Select	ENSP00000364000.3:p.Pro1010Arg
ENST00000374866.7:c.3029C>G	ENSP00000364000.3:p.Pro1010Arg
ENST00000618828.1:c.1868C>G	ENSP00000482184.1:p.Pro623Arg
NM_000393.3:c.3029C>G	NP_000384.2:p.Pro1010Arg
XM_011510573.1:c.2891C>G	XP_011508875.1:p.Pro964Arg
NM_000393.4:c.3029C>G	NP_000384.2:p.Pro1010Arg
XM_011510573.3:c.2891C>G	XP_011508875.1:p.Pro964Arg
NM_000393.5:c.3029C>G MANE Select	NP_000384.2:p.Pro1010Arg