Canonical Allele Identifier: CA430322255
Gene: COL5A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1454520
ClinVar RCV Id: RCV001939517 RCV003170173
dbSNP Id: rs1685766903
gnomAD v3: 2-189050668-A-G
gnomAD v4: 2-189050668-A-G
MyVariant Identifiers: chr2:g.189915394A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189050668A>G , CM000664.2:g.189050668A>G GRCh38
NC_000002.11:g.189915394A>G , CM000664.1:g.189915394A>G GRCh37
NC_000002.10:g.189623639A>G NCBI36
NG_011799.1:g.134212T>C
NG_011799.2:g.134212T>C
NG_011799.3:g.179634T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.2940T>C MANE Select ENSP00000364000.3:p.Asp980=
ENST00000374866.7:c.2940T>C ENSP00000364000.3:p.Asp980=
ENST00000618828.1:c.1779T>C ENSP00000482184.1:p.Asp593=
NM_000393.3:c.2940T>C NP_000384.2:p.Asp980=
XM_011510573.1:c.2802T>C XP_011508875.1:p.Asp934=
NM_000393.4:c.2940T>C NP_000384.2:p.Asp980=
XM_011510573.3:c.2802T>C XP_011508875.1:p.Asp934=
NM_000393.5:c.2940T>C MANE Select NP_000384.2:p.Asp980=
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