Canonical Allele Identifier: CA2662319995
Gene: COL5A2 HGNC NCBI

Linked Data

gnomAD v4: 2-189098779-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189098779A>G , CM000664.2:g.189098779A>G GRCh38
NC_000002.11:g.189963505A>G , CM000664.1:g.189963505A>G GRCh37
NC_000002.10:g.189671750A>G NCBI36
NG_011799.1:g.86101T>C
NG_011799.2:g.86101T>C
NG_011799.3:g.131523T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000374866.9:c.370-20T>C MANE Select ENSP00000364000.3:n.370-20T>C
ENST00000649966.1:c.232-20T>C ENSP00000496785.1:n.232-20T>C
ENST00000374866.7:c.370-20T>C ENSP00000364000.3:n.370-20T>C
ENST00000618828.1:c.-261-20T>C ENSP00000482184.1:n.-261-20T>C
NM_000393.3:c.370-20T>C NP_000384.2:n.370-20T>C
XM_011510573.1:c.232-20T>C XP_011508875.1:n.232-20T>C
NM_000393.4:c.370-20T>C NP_000384.2:n.370-20T>C
XM_011510573.3:c.232-20T>C XP_011508875.1:n.232-20T>C
NM_000393.5:c.370-20T>C MANE Select NP_000384.2:n.370-20T>C
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