Canonical Allele Identifier: CA349879133

Gene: COL5A2

Linked Data

• MyVariant Identifiers: chr2:g.189927632T>G (hg19) ; chr2:g.189062906T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189062906T>G , CM000664.2:g.189062906T>G	GRCh38
NC_000002.11:g.189927632T>G , CM000664.1:g.189927632T>G	GRCh37
NC_000002.10:g.189635877T>G	NCBI36
NG_011799.1:g.121974A>C
NG_011799.2:g.121974A>C
NG_011799.3:g.167396A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.1936A>C MANE Select	ENSP00000364000.3:p.Lys646Gln
ENST00000374866.7:c.1936A>C	ENSP00000364000.3:p.Lys646Gln
ENST00000470524.2:n.42A>C
ENST00000618828.1:c.775A>C	ENSP00000482184.1:p.Lys259Gln
NM_000393.3:c.1936A>C	NP_000384.2:p.Lys646Gln
XM_011510573.1:c.1798A>C	XP_011508875.1:p.Lys600Gln
NM_000393.4:c.1936A>C	NP_000384.2:p.Lys646Gln
XM_011510573.3:c.1798A>C	XP_011508875.1:p.Lys600Gln
NM_000393.5:c.1936A>C MANE Select	NP_000384.2:p.Lys646Gln