Canonical Allele Identifier: CA2021856

Gene: COL5A2

Linked Data

• ClinVar Variation Id: 514666
• ClinVar RCV Id: RCV000607267 ; RCV003758886
• dbSNP Id: rs779762130
• ExAC: 2:189901325 TA / T
• gnomAD v2: 2-189901325-TA-T
• gnomAD v3: 2-189036599-TA-T
• gnomAD v4: 2-189036599-TA-T
• MyVariant Identifiers: chr2:g.189901326del (hg19) ; chr2:g.189036600del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189036602del , CM000664.2:g.189036602del	GRCh38
NC_000002.11:g.189901328del , CM000664.1:g.189901328del	GRCh37
NC_000002.10:g.189609573del	NCBI36
NG_011799.1:g.148280del
NG_011799.2:g.148280del
NG_011799.3:g.193702del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.4113+16del MANE Select	ENSP00000364000.3:n.4113+16del
ENST00000374866.7:c.4113+16del	ENSP00000364000.3:n.4113+16del
ENST00000618828.1:c.2952+16del	ENSP00000482184.1:n.2952+16del
NM_000393.3:c.4113+16del	NP_000384.2:n.4113+16del
XM_011510573.1:c.3975+16del	XP_011508875.1:n.3975+16del
NM_000393.4:c.4113+16del	NP_000384.2:n.4113+16del
XM_011510573.3:c.3975+16del	XP_011508875.1:n.3975+16del
NM_000393.5:c.4113+16del MANE Select	NP_000384.2:n.4113+16del