Canonical Allele Identifier: CA2662314073

Gene: COL5A2

Linked Data

• gnomAD v4: 2-189058706-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189058706C>G , CM000664.2:g.189058706C>G	GRCh38
NC_000002.11:g.189923432C>G , CM000664.1:g.189923432C>G	GRCh37
NC_000002.10:g.189631677C>G	NCBI36
NG_011799.1:g.126174G>C
NG_011799.2:g.126174G>C
NG_011799.3:g.171596G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.2130+143G>C MANE Select	ENSP00000364000.3:n.2130+143G>C
ENST00000374866.7:c.2130+143G>C	ENSP00000364000.3:n.2130+143G>C
ENST00000470524.2:n.236+143G>C
ENST00000618828.1:c.969+143G>C	ENSP00000482184.1:n.969+143G>C
NM_000393.3:c.2130+143G>C	NP_000384.2:n.2130+143G>C
XM_011510573.1:c.1992+143G>C	XP_011508875.1:n.1992+143G>C
NM_000393.4:c.2130+143G>C	NP_000384.2:n.2130+143G>C
XM_011510573.3:c.1992+143G>C	XP_011508875.1:n.1992+143G>C
NM_000393.5:c.2130+143G>C MANE Select	NP_000384.2:n.2130+143G>C