Canonical Allele Identifier: CA2021848

Gene: COL5A2

Linked Data

• ClinVar Variation Id: 2712866
• ClinVar RCV Id: RCV003595149
• dbSNP Id: rs757934485
• ExAC: 2:189899899 CTT / C
• gnomAD v2: 2-189899899-CTT-C
• gnomAD v3: 2-189035173-CTT-C
• gnomAD v4: 2-189035173-CTT-C
• MyVariant Identifiers: chr2:g.189899900_189899901del (hg19) ; chr2:g.189035174_189035175del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189035175_189035176del , CM000664.2:g.189035175_189035176del	GRCh38
NC_000002.11:g.189899901_189899902del , CM000664.1:g.189899901_189899902del	GRCh37
NC_000002.10:g.189608146_189608147del	NCBI36
NG_011799.1:g.149705_149706del
NG_011799.2:g.149705_149706del
NG_011799.3:g.195127_195128del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.4114-20_4114-19del MANE Select	ENSP00000364000.3:n.4114-20_4114-19del
ENST00000374866.7:c.4114-20_4114-19del	ENSP00000364000.3:n.4114-20_4114-19del
ENST00000618828.1:c.2953-20_2953-19del	ENSP00000482184.1:n.2953-20_2953-19del
NM_000393.3:c.4114-20_4114-19del	NP_000384.2:n.4114-20_4114-19del
XM_011510573.1:c.3976-20_3976-19del	XP_011508875.1:n.3976-20_3976-19del
NM_000393.4:c.4114-20_4114-19del	NP_000384.2:n.4114-20_4114-19del
XM_011510573.3:c.3976-20_3976-19del	XP_011508875.1:n.3976-20_3976-19del
NM_000393.5:c.4114-20_4114-19del MANE Select	NP_000384.2:n.4114-20_4114-19del