Canonical Allele Identifier: CA762237932

Gene: COL5A2

Linked Data

• dbSNP Id: rs1214609924
• MyVariant Identifiers: chr2:g.189923412G>A (hg19) ; chr2:g.189058686G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189058686G>A , CM000664.2:g.189058686G>A	GRCh38
NC_000002.11:g.189923412G>A , CM000664.1:g.189923412G>A	GRCh37
NC_000002.10:g.189631657G>A	NCBI36
NG_011799.1:g.126194C>T
NG_011799.2:g.126194C>T
NG_011799.3:g.171616C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.2131-159C>T MANE Select	ENSP00000364000.3:n.2131-159C>T
ENST00000374866.7:c.2131-159C>T	ENSP00000364000.3:n.2131-159C>T
ENST00000470524.2:n.237-159C>T
ENST00000618828.1:c.970-159C>T	ENSP00000482184.1:n.970-159C>T
NM_000393.3:c.2131-159C>T	NP_000384.2:n.2131-159C>T
XM_011510573.1:c.1993-159C>T	XP_011508875.1:n.1993-159C>T
NM_000393.4:c.2131-159C>T	NP_000384.2:n.2131-159C>T
XM_011510573.3:c.1993-159C>T	XP_011508875.1:n.1993-159C>T
NM_000393.5:c.2131-159C>T MANE Select	NP_000384.2:n.2131-159C>T