Canonical Allele Identifier: CA349866836
Gene: COL5A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.189915309G>C (hg19) chr2:g.189050583G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189050583G>C , CM000664.2:g.189050583G>C GRCh38
NC_000002.11:g.189915309G>C , CM000664.1:g.189915309G>C GRCh37
NC_000002.10:g.189623554G>C NCBI36
NG_011799.1:g.134297C>G
NG_011799.2:g.134297C>G
NG_011799.3:g.179719C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.3025C>G MANE Select ENSP00000364000.3:p.Leu1009Val
ENST00000374866.7:c.3025C>G ENSP00000364000.3:p.Leu1009Val
ENST00000618828.1:c.1864C>G ENSP00000482184.1:p.Leu622Val
NM_000393.3:c.3025C>G NP_000384.2:p.Leu1009Val
XM_011510573.1:c.2887C>G XP_011508875.1:p.Leu963Val
NM_000393.4:c.3025C>G NP_000384.2:p.Leu1009Val
XM_011510573.3:c.2887C>G XP_011508875.1:p.Leu963Val
NM_000393.5:c.3025C>G MANE Select NP_000384.2:p.Leu1009Val
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