Canonical Allele Identifier: CA1040422075
Gene: COL5A2 HGNC NCBI

Linked Data

dbSNP Id: rs1686971584
gnomAD v3: 2-189098709-T-C
gnomAD v4: 2-189098709-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189098709T>C , CM000664.2:g.189098709T>C GRCh38
NC_000002.11:g.189963435T>C , CM000664.1:g.189963435T>C GRCh37
NC_000002.10:g.189671680T>C NCBI36
NG_011799.1:g.86171A>G
NG_011799.2:g.86171A>G
NG_011799.3:g.131593A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000374866.9:c.402+18A>G MANE Select ENSP00000364000.3:n.402+18A>G
ENST00000649966.1:c.264+18A>G ENSP00000496785.1:n.264+18A>G
ENST00000374866.7:c.402+18A>G ENSP00000364000.3:n.402+18A>G
ENST00000618828.1:c.-229+18A>G ENSP00000482184.1:n.-229+18A>G
NM_000393.3:c.402+18A>G NP_000384.2:n.402+18A>G
XM_011510573.1:c.264+18A>G XP_011508875.1:n.264+18A>G
NM_000393.4:c.402+18A>G NP_000384.2:n.402+18A>G
XM_011510573.3:c.264+18A>G XP_011508875.1:n.264+18A>G
NM_000393.5:c.402+18A>G MANE Select NP_000384.2:n.402+18A>G
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