Canonical Allele Identifier: CA538451967
Gene: COL5A2 HGNC NCBI

Linked Data

gnomAD v2: 2-189915385-AG-A
gnomAD v4: 2-189050659-AG-A
COSMIC: COSM4449658
MyVariant Identifiers: chr2:g.189915386del (hg19) chr2:g.189050660del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189050665del , CM000664.2:g.189050665del GRCh38
NC_000002.11:g.189915391del , CM000664.1:g.189915391del GRCh37
NC_000002.10:g.189623636del NCBI36
NG_011799.1:g.134220del
NG_011799.2:g.134220del
NG_011799.3:g.179642del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.2948del MANE Select ENSP00000364000.3:p.Pro983LeufsTer?
ENST00000374866.7:c.2948del ENSP00000364000.3:p.Pro983LeufsTer?
ENST00000618828.1:c.1787del ENSP00000482184.1:p.Pro596LeufsTer?
NM_000393.3:c.2948del NP_000384.2:p.Pro983LeufsTer?
XM_011510573.1:c.2810del XP_011508875.1:p.Pro937LeufsTer?
NM_000393.4:c.2948del NP_000384.2:p.Pro983LeufsTer?
XM_011510573.3:c.2810del XP_011508875.1:p.Pro937LeufsTer?
NM_000393.5:c.2948del MANE Select NP_000384.2:p.Pro983LeufsTer?
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