Canonical Allele Identifier: CA538451098

Gene: COL5A2

Linked Data

• dbSNP Id: rs1351072286
• gnomAD v2: 2-189907857-T-C
• gnomAD v4: 2-189043131-T-C
• MyVariant Identifiers: chr2:g.189907857T>C (hg19) ; chr2:g.189043131T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189043131T>C , CM000664.2:g.189043131T>C	GRCh38
NC_000002.11:g.189907857T>C , CM000664.1:g.189907857T>C	GRCh37
NC_000002.10:g.189616102T>C	NCBI36
NG_011799.1:g.141749A>G
NG_011799.2:g.141749A>G
NG_011799.3:g.187171A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000374866.9:c.3471+20A>G MANE Select	ENSP00000364000.3:n.3471+20A>G
ENST00000374866.7:c.3471+20A>G	ENSP00000364000.3:n.3471+20A>G
ENST00000618828.1:c.2310+20A>G	ENSP00000482184.1:n.2310+20A>G
NM_000393.3:c.3471+20A>G	NP_000384.2:n.3471+20A>G
XM_011510573.1:c.3333+20A>G	XP_011508875.1:n.3333+20A>G
NM_000393.4:c.3471+20A>G	NP_000384.2:n.3471+20A>G
XM_011510573.3:c.3333+20A>G	XP_011508875.1:n.3333+20A>G
NM_000393.5:c.3471+20A>G MANE Select	NP_000384.2:n.3471+20A>G