Canonical Allele Identifier: CA349878956

Gene: COL5A2

Linked Data

• MyVariant Identifiers: chr2:g.189927604G>A (hg19) ; chr2:g.189062878G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189062878G>A , CM000664.2:g.189062878G>A	GRCh38
NC_000002.11:g.189927604G>A , CM000664.1:g.189927604G>A	GRCh37
NC_000002.10:g.189635849G>A	NCBI36
NG_011799.1:g.122002C>T
NG_011799.2:g.122002C>T
NG_011799.3:g.167424C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.1964C>T MANE Select	ENSP00000364000.3:p.Pro655Leu
ENST00000374866.7:c.1964C>T	ENSP00000364000.3:p.Pro655Leu
ENST00000470524.2:n.70C>T
ENST00000618828.1:c.803C>T	ENSP00000482184.1:p.Pro268Leu
NM_000393.3:c.1964C>T	NP_000384.2:p.Pro655Leu
XM_011510573.1:c.1826C>T	XP_011508875.1:p.Pro609Leu
NM_000393.4:c.1964C>T	NP_000384.2:p.Pro655Leu
XM_011510573.3:c.1826C>T	XP_011508875.1:p.Pro609Leu
NM_000393.5:c.1964C>T MANE Select	NP_000384.2:p.Pro655Leu