Canonical Allele Identifier: CA2577186637

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189062933A>G , CM000664.2:g.189062933A>G	GRCh38
NC_000002.11:g.189927659A>G , CM000664.1:g.189927659A>G	GRCh37
NC_000002.10:g.189635904A>G	NCBI36
NG_011799.1:g.121947T>C
NG_011799.2:g.121947T>C
NG_011799.3:g.167369T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.1924-15T>C MANE Select	ENSP00000364000.3:n.1924-15T>C
ENST00000374866.7:c.1924-15T>C	ENSP00000364000.3:n.1924-15T>C
ENST00000470524.2:n.30-15T>C
ENST00000618828.1:c.763-15T>C	ENSP00000482184.1:n.763-15T>C
NM_000393.3:c.1924-15T>C	NP_000384.2:n.1924-15T>C
XM_011510573.1:c.1786-15T>C	XP_011508875.1:n.1786-15T>C
NM_000393.4:c.1924-15T>C	NP_000384.2:n.1924-15T>C
XM_011510573.3:c.1786-15T>C	XP_011508875.1:n.1786-15T>C
NM_000393.5:c.1924-15T>C MANE Select	NP_000384.2:n.1924-15T>C