Canonical Allele Identifier: CA2023113

Gene: COL5A2

Linked Data

• dbSNP Id: rs780196717
• ExAC: 2:189963509 G / T
• gnomAD v4: 2-189098783-G-T
• MyVariant Identifiers: chr2:g.189963509G>T (hg19) ; chr2:g.189098783G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189098783G>T , CM000664.2:g.189098783G>T	GRCh38
NC_000002.11:g.189963509G>T , CM000664.1:g.189963509G>T	GRCh37
NC_000002.10:g.189671754G>T	NCBI36
NG_011799.1:g.86097C>A
NG_011799.2:g.86097C>A
NG_011799.3:g.131519C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.370-24C>A MANE Select	ENSP00000364000.3:n.370-24C>A
ENST00000649966.1:c.232-24C>A	ENSP00000496785.1:n.232-24C>A
ENST00000374866.7:c.370-24C>A	ENSP00000364000.3:n.370-24C>A
ENST00000618828.1:c.-261-24C>A	ENSP00000482184.1:n.-261-24C>A
NM_000393.3:c.370-24C>A	NP_000384.2:n.370-24C>A
XM_011510573.1:c.232-24C>A	XP_011508875.1:n.232-24C>A
NM_000393.4:c.370-24C>A	NP_000384.2:n.370-24C>A
XM_011510573.3:c.232-24C>A	XP_011508875.1:n.232-24C>A
NM_000393.5:c.370-24C>A MANE Select	NP_000384.2:n.370-24C>A