Canonical Allele Identifier: CA62594968

Gene: COL5A2

Linked Data

• dbSNP Id: rs537341525
• gnomAD v2: 2-189915253-T-C
• gnomAD v4: 2-189050527-T-C
• MyVariant Identifiers: chr2:g.189915253T>C (hg19) ; chr2:g.189050527T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189050527T>C , CM000664.2:g.189050527T>C	GRCh38
NC_000002.11:g.189915253T>C , CM000664.1:g.189915253T>C	GRCh37
NC_000002.10:g.189623498T>C	NCBI36
NG_011799.1:g.134353A>G
NG_011799.2:g.134353A>G
NG_011799.3:g.179775A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.3039+42A>G MANE Select	ENSP00000364000.3:n.3039+42A>G
ENST00000374866.7:c.3039+42A>G	ENSP00000364000.3:n.3039+42A>G
ENST00000618828.1:c.1878+42A>G	ENSP00000482184.1:n.1878+42A>G
NM_000393.3:c.3039+42A>G	NP_000384.2:n.3039+42A>G
XM_011510573.1:c.2901+42A>G	XP_011508875.1:n.2901+42A>G
NM_000393.4:c.3039+42A>G	NP_000384.2:n.3039+42A>G
XM_011510573.3:c.2901+42A>G	XP_011508875.1:n.2901+42A>G
NM_000393.5:c.3039+42A>G MANE Select	NP_000384.2:n.3039+42A>G