Canonical Allele Identifier: CA1315428441

Gene: COL5A2

Linked Data

• dbSNP Id: rs915045916
• gnomAD v3: 2-189058633-A-C
• gnomAD v4: 2-189058633-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189058633A>C , CM000664.2:g.189058633A>C	GRCh38
NC_000002.11:g.189923359A>C , CM000664.1:g.189923359A>C	GRCh37
NC_000002.10:g.189631604A>C	NCBI36
NG_011799.1:g.126247T>G
NG_011799.2:g.126247T>G
NG_011799.3:g.171669T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.2131-106T>G MANE Select	ENSP00000364000.3:n.2131-106T>G
ENST00000374866.7:c.2131-106T>G	ENSP00000364000.3:n.2131-106T>G
ENST00000470524.2:n.237-106T>G
ENST00000618828.1:c.970-106T>G	ENSP00000482184.1:n.970-106T>G
NM_000393.3:c.2131-106T>G	NP_000384.2:n.2131-106T>G
XM_011510573.1:c.1993-106T>G	XP_011508875.1:n.1993-106T>G
NM_000393.4:c.2131-106T>G	NP_000384.2:n.2131-106T>G
XM_011510573.3:c.1993-106T>G	XP_011508875.1:n.1993-106T>G
NM_000393.5:c.2131-106T>G MANE Select	NP_000384.2:n.2131-106T>G