Canonical Allele Identifier: CA349863996

Gene: COL5A2

Linked Data

• MyVariant Identifiers: chr2:g.189963486C>G (hg19) ; chr2:g.189098760C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189098760C>G , CM000664.2:g.189098760C>G	GRCh38
NC_000002.11:g.189963486C>G , CM000664.1:g.189963486C>G	GRCh37
NC_000002.10:g.189671731C>G	NCBI36
NG_011799.1:g.86120G>C
NG_011799.2:g.86120G>C
NG_011799.3:g.131542G>C

Transcript Alleles

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