Canonical Allele Identifier: CA324898
Gene: COL5A2 HGNC NCBI
ClinVar RCV:
RCV000200339
ClinVar Variation:
213121
dbSNP:
762080305
gnomAD v2:
2:189907905 G / A
gnomAD v4:
chr2-189043179-G-A
MyVariant.info:
GRCh38 chr2:g.189043179G>A
GRCh37 chr2:g.189907905G>A
Revel Score:
ENST00000374866 (MANE Select) 0.620
ENST00000452536 0.620
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.3443C>T MANE Select ENSP00000364000.3:p.Thr1148Ile
ENST00000374866.7:c.3443C>T ENSP00000364000.3:p.Thr1148Ile
ENST00000618828.1:c.2282C>T ENSP00000482184.1:p.Thr761Ile
NM_000393.3:c.3443C>T NP_000384.2:p.Thr1148Ile
XM_011510573.1:c.3305C>T XP_011508875.1:p.Thr1102Ile
NM_000393.4:c.3443C>T NP_000384.2:p.Thr1148Ile
XM_011510573.3:c.3305C>T XP_011508875.1:p.Thr1102Ile
NM_000393.5:c.3443C>T MANE Select NP_000384.2:p.Thr1148Ile
Search 100 bp 5'
Search 100 bp 3'