Canonical Allele Identifier: CA349862954
Gene: COL5A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 498913
ClinVar RCV Id: RCV000591107
dbSNP Id: rs1332988061
gnomAD v2: 2-189910633-C-T
gnomAD v4: 2-189045907-C-T
MyVariant Identifiers: chr2:g.189910633C>T (hg19) chr2:g.189045907C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189045907C>T , CM000664.2:g.189045907C>T GRCh38
NC_000002.11:g.189910633C>T , CM000664.1:g.189910633C>T GRCh37
NC_000002.10:g.189618878C>T NCBI36
NG_011799.1:g.138973G>A
NG_011799.2:g.138973G>A
NG_011799.3:g.184395G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000374866.9:c.3202G>A MANE Select ENSP00000364000.3:p.Gly1068Ser
ENST00000374866.7:c.3202G>A ENSP00000364000.3:p.Gly1068Ser
ENST00000618828.1:c.2041G>A ENSP00000482184.1:p.Gly681Ser
NM_000393.3:c.3202G>A NP_000384.2:p.Gly1068Ser
XM_011510573.1:c.3064G>A XP_011508875.1:p.Gly1022Ser
NM_000393.4:c.3202G>A NP_000384.2:p.Gly1068Ser
XM_011510573.3:c.3064G>A XP_011508875.1:p.Gly1022Ser
NM_000393.5:c.3202G>A MANE Select NP_000384.2:p.Gly1068Ser
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Search 100 bp 3'