Canonical Allele Identifier: CA349878879

Gene: COL5A2

Linked Data

• MyVariant Identifiers: chr2:g.189927590C>G (hg19) ; chr2:g.189062864C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189062864C>G , CM000664.2:g.189062864C>G	GRCh38
NC_000002.11:g.189927590C>G , CM000664.1:g.189927590C>G	GRCh37
NC_000002.10:g.189635835C>G	NCBI36
NG_011799.1:g.122016G>C
NG_011799.2:g.122016G>C
NG_011799.3:g.167438G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.1977+1G>C MANE Select	ENSP00000364000.3:n.1977+1G>C
ENST00000374866.7:c.1977+1G>C	ENSP00000364000.3:n.1977+1G>C
ENST00000470524.2:n.83+1G>C
ENST00000618828.1:c.816+1G>C	ENSP00000482184.1:n.816+1G>C
NM_000393.3:c.1977+1G>C	NP_000384.2:n.1977+1G>C
XM_011510573.1:c.1839+1G>C	XP_011508875.1:n.1839+1G>C
NM_000393.4:c.1977+1G>C	NP_000384.2:n.1977+1G>C
XM_011510573.3:c.1839+1G>C	XP_011508875.1:n.1839+1G>C
NM_000393.5:c.1977+1G>C MANE Select	NP_000384.2:n.1977+1G>C