Canonical Allele Identifier: CA2022009
Gene: COL5A2 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.189043249C>T
GRCh37 chr2:g.189907975C>T
Revel Score:
ENST00000374866 (MANE Select) 1.000
ENST00000452536 1.000
gnomAD v2:
2:189907975 C / T
gnomAD v4:
chr2-189043249-C-T
Joint Max Group AF 0.00005119 (NFE)
Exomes Max Group AF 0.00005433 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189043249C>T , CM000664.2:g.189043249C>T GRCh38
NC_000002.11:g.189907975C>T , CM000664.1:g.189907975C>T GRCh37
NC_000002.10:g.189616220C>T NCBI36
NG_011799.1:g.141631G>A
NG_011799.2:g.141631G>A
NG_011799.3:g.187053G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.3373G>A MANE Select ENSP00000364000.3:p.Gly1125Arg
ENST00000374866.7:c.3373G>A ENSP00000364000.3:p.Gly1125Arg
ENST00000618828.1:c.2212G>A ENSP00000482184.1:p.Gly738Arg
NM_000393.3:c.3373G>A NP_000384.2:p.Gly1125Arg
XM_011510573.1:c.3235G>A XP_011508875.1:p.Gly1079Arg
NM_000393.4:c.3373G>A NP_000384.2:p.Gly1125Arg
XM_011510573.3:c.3235G>A XP_011508875.1:p.Gly1079Arg
NM_000393.5:c.3373G>A MANE Select NP_000384.2:p.Gly1125Arg
Search 100 bp 5'
Search 100 bp 3'