Canonical Allele Identifier: CA62594978
Gene: COL5A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2196798
ClinVar RCV Id: RCV002624465
dbSNP Id: rs981788927
gnomAD v2: 2-189915282-T-C
gnomAD v3: 2-189050556-T-C
gnomAD v4: 2-189050556-T-C
MyVariant Identifiers: chr2:g.189915282T>C (hg19) chr2:g.189050556T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189050556T>C , CM000664.2:g.189050556T>C GRCh38
NC_000002.11:g.189915282T>C , CM000664.1:g.189915282T>C GRCh37
NC_000002.10:g.189623527T>C NCBI36
NG_011799.1:g.134324A>G
NG_011799.2:g.134324A>G
NG_011799.3:g.179746A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.3039+13A>G MANE Select ENSP00000364000.3:n.3039+13A>G
ENST00000374866.7:c.3039+13A>G ENSP00000364000.3:n.3039+13A>G
ENST00000618828.1:c.1878+13A>G ENSP00000482184.1:n.1878+13A>G
NM_000393.3:c.3039+13A>G NP_000384.2:n.3039+13A>G
XM_011510573.1:c.2901+13A>G XP_011508875.1:n.2901+13A>G
NM_000393.4:c.3039+13A>G NP_000384.2:n.3039+13A>G
XM_011510573.3:c.2901+13A>G XP_011508875.1:n.2901+13A>G
NM_000393.5:c.3039+13A>G MANE Select NP_000384.2:n.3039+13A>G
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