Canonical Allele Identifier: CA349878969

Gene: COL5A2

Linked Data

• COSMIC: COSM5590329
• MyVariant Identifiers: chr2:g.189927605G>A (hg19) ; chr2:g.189062879G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189062879G>A , CM000664.2:g.189062879G>A	GRCh38
NC_000002.11:g.189927605G>A , CM000664.1:g.189927605G>A	GRCh37
NC_000002.10:g.189635850G>A	NCBI36
NG_011799.1:g.122001C>T
NG_011799.2:g.122001C>T
NG_011799.3:g.167423C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000374866.9:c.1963C>T MANE Select	ENSP00000364000.3:p.Pro655Ser
ENST00000374866.7:c.1963C>T	ENSP00000364000.3:p.Pro655Ser
ENST00000470524.2:n.69C>T
ENST00000618828.1:c.802C>T	ENSP00000482184.1:p.Pro268Ser
NM_000393.3:c.1963C>T	NP_000384.2:p.Pro655Ser
XM_011510573.1:c.1825C>T	XP_011508875.1:p.Pro609Ser
NM_000393.4:c.1963C>T	NP_000384.2:p.Pro655Ser
XM_011510573.3:c.1825C>T	XP_011508875.1:p.Pro609Ser
NM_000393.5:c.1963C>T MANE Select	NP_000384.2:p.Pro655Ser