Canonical Allele Identifier: CA2662317358

Gene: COL5A2

Linked Data

• gnomAD v4: 2-189045714-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189045714T>C , CM000664.2:g.189045714T>C	GRCh38
NC_000002.11:g.189910440T>C , CM000664.1:g.189910440T>C	GRCh37
NC_000002.10:g.189618685T>C	NCBI36
NG_011799.1:g.139166A>G
NG_011799.2:g.139166A>G
NG_011799.3:g.184588A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000374866.9:c.3309+86A>G MANE Select	ENSP00000364000.3:n.3309+86A>G
ENST00000374866.7:c.3309+86A>G	ENSP00000364000.3:n.3309+86A>G
ENST00000618828.1:c.2148+86A>G	ENSP00000482184.1:n.2148+86A>G
NM_000393.3:c.3309+86A>G	NP_000384.2:n.3309+86A>G
XM_011510573.1:c.3171+86A>G	XP_011508875.1:n.3171+86A>G
NM_000393.4:c.3309+86A>G	NP_000384.2:n.3309+86A>G
XM_011510573.3:c.3171+86A>G	XP_011508875.1:n.3171+86A>G
NM_000393.5:c.3309+86A>G MANE Select	NP_000384.2:n.3309+86A>G