Canonical Allele Identifier: CA349860770
Gene: COL5A2 HGNC NCBI
dbSNP:
762080305
gnomAD v2:
2:189907905 G / C
gnomAD v4:
chr2-189043179-G-C
MyVariant.info:
GRCh38 chr2:g.189043179G>C
GRCh37 chr2:g.189907905G>C
Revel Score:
ENST00000374866 (MANE Select) 0.447
ENST00000452536 0.447
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189043179G>C , CM000664.2:g.189043179G>C GRCh38
NC_000002.11:g.189907905G>C , CM000664.1:g.189907905G>C GRCh37
NC_000002.10:g.189616150G>C NCBI36
NG_011799.1:g.141701C>G
NG_011799.2:g.141701C>G
NG_011799.3:g.187123C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.3443C>G MANE Select ENSP00000364000.3:p.Thr1148Ser
ENST00000374866.7:c.3443C>G ENSP00000364000.3:p.Thr1148Ser
ENST00000618828.1:c.2282C>G ENSP00000482184.1:p.Thr761Ser
NM_000393.3:c.3443C>G NP_000384.2:p.Thr1148Ser
XM_011510573.1:c.3305C>G XP_011508875.1:p.Thr1102Ser
NM_000393.4:c.3443C>G NP_000384.2:p.Thr1148Ser
XM_011510573.3:c.3305C>G XP_011508875.1:p.Thr1102Ser
NM_000393.5:c.3443C>G MANE Select NP_000384.2:p.Thr1148Ser
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