Canonical Allele Identifier: CA538453378
Gene: COL5A2 HGNC NCBI

Linked Data

dbSNP Id: rs1181043401
gnomAD v2: 2-189923400-ATT-A
gnomAD v3: 2-189058674-ATT-A
gnomAD v4: 2-189058674-ATT-A
MyVariant Identifiers: chr2:g.189923401_189923402del (hg19) chr2:g.189058675_189058676del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189058676_189058677del , CM000664.2:g.189058676_189058677del GRCh38
NC_000002.11:g.189923402_189923403del , CM000664.1:g.189923402_189923403del GRCh37
NC_000002.10:g.189631647_189631648del NCBI36
NG_011799.1:g.126204_126205del
NG_011799.2:g.126204_126205del
NG_011799.3:g.171626_171627del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.2131-149_2131-148del MANE Select ENSP00000364000.3:n.2131-149_2131-148del
ENST00000374866.7:c.2131-149_2131-148del ENSP00000364000.3:n.2131-149_2131-148del
ENST00000470524.2:n.237-149_237-148del
ENST00000618828.1:c.970-149_970-148del ENSP00000482184.1:n.970-149_970-148del
NM_000393.3:c.2131-149_2131-148del NP_000384.2:n.2131-149_2131-148del
XM_011510573.1:c.1993-149_1993-148del XP_011508875.1:n.1993-149_1993-148del
NM_000393.4:c.2131-149_2131-148del NP_000384.2:n.2131-149_2131-148del
XM_011510573.3:c.1993-149_1993-148del XP_011508875.1:n.1993-149_1993-148del
NM_000393.5:c.2131-149_2131-148del MANE Select NP_000384.2:n.2131-149_2131-148del
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