Canonical Allele Identifier: CA201874

Gene: COL5A2

Linked Data

• ClinVar Variation Id: 195650
• ClinVar RCV Id: RCV000176263
• dbSNP Id: rs113512079
• ExAC: 2:189931449 C / A
• gnomAD v2: 2-189931449-C-A
• gnomAD v3: 2-189066723-C-A
• gnomAD v4: 2-189066723-C-A
• MyVariant Identifiers: chr2:g.189931449C>A (hg19) ; chr2:g.189066723C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189066723C>A , CM000664.2:g.189066723C>A	GRCh38
NC_000002.11:g.189931449C>A , CM000664.1:g.189931449C>A	GRCh37
NC_000002.10:g.189639694C>A	NCBI36
NG_011799.1:g.118157G>T
NG_011799.2:g.118157G>T
NG_011799.3:g.163579G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000374866.9:c.1455+6G>T MANE Select	ENSP00000364000.3:n.1455+6G>T
ENST00000374866.7:c.1455+6G>T	ENSP00000364000.3:n.1455+6G>T
ENST00000618828.1:c.359-290G>T	ENSP00000482184.1:n.359-290G>T
NM_000393.3:c.1455+6G>T	NP_000384.2:n.1455+6G>T
XM_011510573.1:c.1317+6G>T	XP_011508875.1:n.1317+6G>T
NM_000393.4:c.1455+6G>T	NP_000384.2:n.1455+6G>T
XM_011510573.3:c.1317+6G>T	XP_011508875.1:n.1317+6G>T
NM_000393.5:c.1455+6G>T MANE Select	NP_000384.2:n.1455+6G>T