Canonical Allele Identifier: CA1315445878
Gene: COL5A2 HGNC NCBI

Linked Data

dbSNP Id: rs1686970486
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189098658_189098660del , CM000664.2:g.189098658_189098660del GRCh38
NC_000002.11:g.189963384_189963386del , CM000664.1:g.189963384_189963386del GRCh37
NC_000002.10:g.189671629_189671631del NCBI36
NG_011799.1:g.86223_86225del
NG_011799.2:g.86223_86225del
NG_011799.3:g.131645_131647del

Transcript Alleles

HGVS Amino-acid change
ENST00000374866.9:c.402+70_402+72del MANE Select ENSP00000364000.3:n.402+70_402+72del
ENST00000649966.1:c.264+70_264+72del ENSP00000496785.1:n.264+70_264+72del
ENST00000374866.7:c.402+70_402+72del ENSP00000364000.3:n.402+70_402+72del
ENST00000618828.1:c.-229+70_-229+72del ENSP00000482184.1:n.-229+70_-229+72del
NM_000393.3:c.402+70_402+72del NP_000384.2:n.402+70_402+72del
XM_011510573.1:c.264+70_264+72del XP_011508875.1:n.264+70_264+72del
NM_000393.4:c.402+70_402+72del NP_000384.2:n.402+70_402+72del
XM_011510573.3:c.264+70_264+72del XP_011508875.1:n.264+70_264+72del
NM_000393.5:c.402+70_402+72del MANE Select NP_000384.2:n.402+70_402+72del
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