Canonical Allele Identifier: CA346259
Gene: COL5A2 HGNC NCBI
ClinVar RCV:
RCV000157152
RCV000356709
RCV001139304
RCV001569254
RCV002229381
RCV002277314
RCV002313005
ClinVar Variation:
180305
dbSNP:
200325397
gnomAD v2:
2:189904129 T / C
gnomAD v3:
2:189039403 T / C
gnomAD v4:
chr2-189039403-T-C
Joint Max Group AF 0.0000581 (MID)
Genomes Max Group AF 0.00005847 (NFE)
Exomes Max Group AF 0.00006105 (MID)
MyVariant.info:
GRCh38 chr2:g.189039403T>C
GRCh37 chr2:g.189904129T>C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189039403T>C , CM000664.2:g.189039403T>C GRCh38
NC_000002.11:g.189904129T>C , CM000664.1:g.189904129T>C GRCh37
NC_000002.10:g.189612374T>C NCBI36
NG_011799.1:g.145477A>G
NG_011799.2:g.145477A>G
NG_011799.3:g.190899A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.3794A>G MANE Select ENSP00000364000.3:p.Asp1265Gly
ENST00000374866.7:c.3794A>G ENSP00000364000.3:p.Asp1265Gly
ENST00000618828.1:c.2633A>G ENSP00000482184.1:p.Asp878Gly
NM_000393.3:c.3794A>G NP_000384.2:p.Asp1265Gly
XM_011510573.1:c.3656A>G XP_011508875.1:p.Asp1219Gly
NM_000393.4:c.3794A>G NP_000384.2:p.Asp1265Gly
XM_011510573.3:c.3656A>G XP_011508875.1:p.Asp1219Gly
NM_000393.5:c.3794A>G MANE Select NP_000384.2:p.Asp1265Gly
Search 100 bp 5'
Search 100 bp 3'