Canonical Allele Identifier: CA62600227
Gene: COL5A2 HGNC NCBI

Linked Data

dbSNP Id: rs762993813
MyVariant Identifiers: chr2:g.189923971del (hg19) chr2:g.189059245del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189059247del , CM000664.2:g.189059247del GRCh38
NC_000002.11:g.189923973del , CM000664.1:g.189923973del GRCh37
NC_000002.10:g.189632218del NCBI36
NG_011799.1:g.125635del
NG_011799.2:g.125635del
NG_011799.3:g.171057del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.2086-352del MANE Select ENSP00000364000.3:n.2086-352del
ENST00000374866.7:c.2086-352del ENSP00000364000.3:n.2086-352del
ENST00000470524.2:n.192-352del
ENST00000618828.1:c.925-352del ENSP00000482184.1:n.925-352del
NM_000393.3:c.2086-352del NP_000384.2:n.2086-352del
XM_011510573.1:c.1948-352del XP_011508875.1:n.1948-352del
NM_000393.4:c.2086-352del NP_000384.2:n.2086-352del
XM_011510573.3:c.1948-352del XP_011508875.1:n.1948-352del
NM_000393.5:c.2086-352del MANE Select NP_000384.2:n.2086-352del
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