Canonical Allele Identifier: CA762241295

Gene: COL5A2

Linked Data

• dbSNP Id: rs1347157884
• gnomAD v3: 2-189062797-AC-A
• gnomAD v4: 2-189062797-AC-A
• MyVariant Identifiers: chr2:g.189927524del (hg19) ; chr2:g.189062798del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189062798del , CM000664.2:g.189062798del	GRCh38
NC_000002.11:g.189927524del , CM000664.1:g.189927524del	GRCh37
NC_000002.10:g.189635769del	NCBI36
NG_011799.1:g.122082del
NG_011799.2:g.122082del
NG_011799.3:g.167504del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.1977+67del MANE Select	ENSP00000364000.3:n.1977+67del
ENST00000374866.7:c.1977+67del	ENSP00000364000.3:n.1977+67del
ENST00000470524.2:n.83+67del
ENST00000618828.1:c.816+67del	ENSP00000482184.1:n.816+67del
NM_000393.3:c.1977+67del	NP_000384.2:n.1977+67del
XM_011510573.1:c.1839+67del	XP_011508875.1:n.1839+67del
NM_000393.4:c.1977+67del	NP_000384.2:n.1977+67del
XM_011510573.3:c.1839+67del	XP_011508875.1:n.1839+67del
NM_000393.5:c.1977+67del MANE Select	NP_000384.2:n.1977+67del