Canonical Allele Identifier: CA16617402
Gene: COL5A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 421503
ClinVar RCV Id: RCV000478518 RCV002313251 RCV002230938
dbSNP Id: rs1064795177
gnomAD v3: 2-189098750-T-C
gnomAD v4: 2-189098750-T-C
COSMIC: COSM5014269
MyVariant Identifiers: chr2:g.189963476T>C (hg19) chr2:g.189098750T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189098750T>C , CM000664.2:g.189098750T>C GRCh38
NC_000002.11:g.189963476T>C , CM000664.1:g.189963476T>C GRCh37
NC_000002.10:g.189671721T>C NCBI36
NG_011799.1:g.86130A>G
NG_011799.2:g.86130A>G
NG_011799.3:g.131552A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.379A>G MANE Select ENSP00000364000.3:p.Ile127Val
ENST00000649966.1:c.241A>G ENSP00000496785.1:p.Ile81Val
ENST00000374866.7:c.379A>G ENSP00000364000.3:p.Ile127Val
ENST00000618828.1:c.-252A>G ENSP00000482184.1:n.-252A>G
NM_000393.3:c.379A>G NP_000384.2:p.Ile127Val
XM_011510573.1:c.241A>G XP_011508875.1:p.Ile81Val
NM_000393.4:c.379A>G NP_000384.2:p.Ile127Val
XM_011510573.3:c.241A>G XP_011508875.1:p.Ile81Val
NM_000393.5:c.379A>G MANE Select NP_000384.2:p.Ile127Val
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Search 100 bp 3'