Canonical Allele Identifier: CA349871130

Gene: COL5A2

Linked Data

• ClinVar Variation Id: 2443597
• ClinVar RCV Id: RCV003152204
• MyVariant Identifiers: chr2:g.189917684C>T (hg19) ; chr2:g.189052958C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189052958C>T , CM000664.2:g.189052958C>T	GRCh38
NC_000002.11:g.189917684C>T , CM000664.1:g.189917684C>T	GRCh37
NC_000002.10:g.189625929C>T	NCBI36
NG_011799.1:g.131922G>A
NG_011799.2:g.131922G>A
NG_011799.3:g.177344G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000374866.9:c.2614G>A MANE Select	ENSP00000364000.3:p.Ala872Thr
ENST00000374866.7:c.2614G>A	ENSP00000364000.3:p.Ala872Thr
ENST00000618828.1:c.1453G>A	ENSP00000482184.1:p.Ala485Thr
NM_000393.3:c.2614G>A	NP_000384.2:p.Ala872Thr
XM_011510573.1:c.2476G>A	XP_011508875.1:p.Ala826Thr
NM_000393.4:c.2614G>A	NP_000384.2:p.Ala872Thr
XM_011510573.3:c.2476G>A	XP_011508875.1:p.Ala826Thr
NM_000393.5:c.2614G>A MANE Select	NP_000384.2:p.Ala872Thr