Canonical Allele Identifier: CA1315424877

Gene: COL5A2

Linked Data

• dbSNP Id: rs112564948

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189050287A>G , CM000664.2:g.189050287A>G	GRCh38
NC_000002.11:g.189915013A>G , CM000664.1:g.189915013A>G	GRCh37
NC_000002.10:g.189623258A>G	NCBI36
NG_011799.1:g.134593T>C
NG_011799.2:g.134593T>C
NG_011799.3:g.180015T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.3039+282T>C MANE Select	ENSP00000364000.3:n.3039+282T>C
ENST00000374866.7:c.3039+282T>C	ENSP00000364000.3:n.3039+282T>C
ENST00000618828.1:c.1878+282T>C	ENSP00000482184.1:n.1878+282T>C
NM_000393.3:c.3039+282T>C	NP_000384.2:n.3039+282T>C
XM_011510573.1:c.2901+282T>C	XP_011508875.1:n.2901+282T>C
NM_000393.4:c.3039+282T>C	NP_000384.2:n.3039+282T>C
XM_011510573.3:c.2901+282T>C	XP_011508875.1:n.2901+282T>C
NM_000393.5:c.3039+282T>C MANE Select	NP_000384.2:n.3039+282T>C