Canonical Allele Identifier: CA2021833
Gene: COL5A2 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.189035106G>C
GRCh37 chr2:g.189899832G>C
Revel Score:
ENST00000374866 (MANE Select) 0.611
ENST00000452536 0.611
gnomAD v2:
2:189899832 G / C
gnomAD v3:
2:189035106 G / C
gnomAD v4:
chr2-189035106-G-C
Joint Max Group AF 0.0000255 (AFR)
Genomes Max Group AF 0.00001921 (AFR)
Exomes Max Group AF 0.0000099 (AFR)
ClinVar RCV:
RCV001949768
ClinVar Variation:
1426590
dbSNP:
771415085
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189035106G>C , CM000664.2:g.189035106G>C GRCh38
NC_000002.11:g.189899832G>C , CM000664.1:g.189899832G>C GRCh37
NC_000002.10:g.189608077G>C NCBI36
NG_011799.1:g.149774C>G
NG_011799.2:g.149774C>G
NG_011799.3:g.195196C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.4163C>G MANE Select ENSP00000364000.3:p.Thr1388Ser
ENST00000374866.7:c.4163C>G ENSP00000364000.3:p.Thr1388Ser
ENST00000618828.1:c.3002C>G ENSP00000482184.1:p.Thr1001Ser
NM_000393.3:c.4163C>G NP_000384.2:p.Thr1388Ser
XM_011510573.1:c.4025C>G XP_011508875.1:p.Thr1342Ser
NM_000393.4:c.4163C>G NP_000384.2:p.Thr1388Ser
XM_011510573.3:c.4025C>G XP_011508875.1:p.Thr1342Ser
NM_000393.5:c.4163C>G MANE Select NP_000384.2:p.Thr1388Ser
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