Canonical Allele Identifier: CA2662319980
Gene: COL5A2 HGNC NCBI

Linked Data

gnomAD v4: 2-189098710-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189098710T>G , CM000664.2:g.189098710T>G GRCh38
NC_000002.11:g.189963436T>G , CM000664.1:g.189963436T>G GRCh37
NC_000002.10:g.189671681T>G NCBI36
NG_011799.1:g.86170A>C
NG_011799.2:g.86170A>C
NG_011799.3:g.131592A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000374866.9:c.402+17A>C MANE Select ENSP00000364000.3:n.402+17A>C
ENST00000649966.1:c.264+17A>C ENSP00000496785.1:n.264+17A>C
ENST00000374866.7:c.402+17A>C ENSP00000364000.3:n.402+17A>C
ENST00000618828.1:c.-229+17A>C ENSP00000482184.1:n.-229+17A>C
NM_000393.3:c.402+17A>C NP_000384.2:n.402+17A>C
XM_011510573.1:c.264+17A>C XP_011508875.1:n.264+17A>C
NM_000393.4:c.402+17A>C NP_000384.2:n.402+17A>C
XM_011510573.3:c.264+17A>C XP_011508875.1:n.264+17A>C
NM_000393.5:c.402+17A>C MANE Select NP_000384.2:n.402+17A>C
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