Canonical Allele Identifier: CA62599993
Gene: COL5A2 HGNC NCBI

Linked Data

dbSNP Id: rs564285795
gnomAD v2: 2-189923327-GC-G
gnomAD v3: 2-189058601-GC-G
gnomAD v4: 2-189058601-GC-G
MyVariant Identifiers: chr2:g.189923328del (hg19) chr2:g.189058602del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189058602del , CM000664.2:g.189058602del GRCh38
NC_000002.11:g.189923328del , CM000664.1:g.189923328del GRCh37
NC_000002.10:g.189631573del NCBI36
NG_011799.1:g.126278del
NG_011799.2:g.126278del
NG_011799.3:g.171700del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.2131-75del MANE Select ENSP00000364000.3:n.2131-75del
ENST00000374866.7:c.2131-75del ENSP00000364000.3:n.2131-75del
ENST00000470524.2:n.237-75del
ENST00000618828.1:c.970-75del ENSP00000482184.1:n.970-75del
NM_000393.3:c.2131-75del NP_000384.2:n.2131-75del
XM_011510573.1:c.1993-75del XP_011508875.1:n.1993-75del
NM_000393.4:c.2131-75del NP_000384.2:n.2131-75del
XM_011510573.3:c.1993-75del XP_011508875.1:n.1993-75del
NM_000393.5:c.2131-75del MANE Select NP_000384.2:n.2131-75del
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