Canonical Allele Identifier: CA1315445947

Gene: COL5A2

Linked Data

• dbSNP Id: rs1686975437
• gnomAD v4: 2-189098843-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189098843C>T , CM000664.2:g.189098843C>T	GRCh38
NC_000002.11:g.189963569C>T , CM000664.1:g.189963569C>T	GRCh37
NC_000002.10:g.189671814C>T	NCBI36
NG_011799.1:g.86037G>A
NG_011799.2:g.86037G>A
NG_011799.3:g.131459G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.370-84G>A MANE Select	ENSP00000364000.3:n.370-84G>A
ENST00000649966.1:c.232-84G>A	ENSP00000496785.1:n.232-84G>A
ENST00000374866.7:c.370-84G>A	ENSP00000364000.3:n.370-84G>A
ENST00000618828.1:c.-261-84G>A	ENSP00000482184.1:n.-261-84G>A
NM_000393.3:c.370-84G>A	NP_000384.2:n.370-84G>A
XM_011510573.1:c.232-84G>A	XP_011508875.1:n.232-84G>A
NM_000393.4:c.370-84G>A	NP_000384.2:n.370-84G>A
XM_011510573.3:c.232-84G>A	XP_011508875.1:n.232-84G>A
NM_000393.5:c.370-84G>A MANE Select	NP_000384.2:n.370-84G>A