Canonical Allele Identifier: CA2022005
Gene: COL5A2 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.189043231C>A
GRCh37 chr2:g.189907957C>A
Revel Score:
ENST00000374866 (MANE Select) 0.982
ENST00000452536 0.982
gnomAD v2:
2:189907957 C / A
gnomAD v3:
2:189043231 C / A
gnomAD v4:
chr2-189043231-C-A
Joint Max Group AF 0.00001746 (AFR)
Genomes Max Group AF 0.0000192 (AFR)
ClinVar RCV:
RCV001757914
RCV001882828
ClinVar Variation:
1303359
dbSNP:
747946828
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189043231C>A , CM000664.2:g.189043231C>A GRCh38
NC_000002.11:g.189907957C>A , CM000664.1:g.189907957C>A GRCh37
NC_000002.10:g.189616202C>A NCBI36
NG_011799.1:g.141649G>T
NG_011799.2:g.141649G>T
NG_011799.3:g.187071G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.3391G>T MANE Select ENSP00000364000.3:p.Gly1131Cys
ENST00000374866.7:c.3391G>T ENSP00000364000.3:p.Gly1131Cys
ENST00000618828.1:c.2230G>T ENSP00000482184.1:p.Gly744Cys
NM_000393.3:c.3391G>T NP_000384.2:p.Gly1131Cys
XM_011510573.1:c.3253G>T XP_011508875.1:p.Gly1085Cys
NM_000393.4:c.3391G>T NP_000384.2:p.Gly1131Cys
XM_011510573.3:c.3253G>T XP_011508875.1:p.Gly1085Cys
NM_000393.5:c.3391G>T MANE Select NP_000384.2:p.Gly1131Cys
Search 100 bp 5'
Search 100 bp 3'