Canonical Allele Identifier: CA2573134243

Gene: COL5A2

Linked Data

• ClinVar Variation Id: 1620704
• ClinVar RCV Id: RCV002099233
• dbSNP Id: rs2105686943

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189098768T>A , CM000664.2:g.189098768T>A	GRCh38
NC_000002.11:g.189963494T>A , CM000664.1:g.189963494T>A	GRCh37
NC_000002.10:g.189671739T>A	NCBI36
NG_011799.1:g.86112A>T
NG_011799.2:g.86112A>T
NG_011799.3:g.131534A>T

Transcript Alleles

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