Canonical Allele Identifier: CA1040408211
Gene: COL5A2 HGNC NCBI

Linked Data

dbSNP Id: rs1685755487
gnomAD v3: 2-189050250-A-G
gnomAD v4: 2-189050250-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189050250A>G , CM000664.2:g.189050250A>G GRCh38
NC_000002.11:g.189914976A>G , CM000664.1:g.189914976A>G GRCh37
NC_000002.10:g.189623221A>G NCBI36
NG_011799.1:g.134630T>C
NG_011799.2:g.134630T>C
NG_011799.3:g.180052T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.3039+319T>C MANE Select ENSP00000364000.3:n.3039+319T>C
ENST00000374866.7:c.3039+319T>C ENSP00000364000.3:n.3039+319T>C
ENST00000618828.1:c.1878+319T>C ENSP00000482184.1:n.1878+319T>C
NM_000393.3:c.3039+319T>C NP_000384.2:n.3039+319T>C
XM_011510573.1:c.2901+319T>C XP_011508875.1:n.2901+319T>C
NM_000393.4:c.3039+319T>C NP_000384.2:n.3039+319T>C
XM_011510573.3:c.2901+319T>C XP_011508875.1:n.2901+319T>C
NM_000393.5:c.3039+319T>C MANE Select NP_000384.2:n.3039+319T>C
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