Canonical Allele Identifier: CA127107
Gene: COL8A2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.36098332A>C
GRCh37 chr1:g.36563933A>C
Revel Score:
ENST00000303143 0.632
ENST00000397799 (MANE Select) 0.632
ENST00000481785 0.632
gnomAD v2:
1:36563933 A / C
gnomAD v4:
chr1-36098332-A-C
Joint Max Group AF 8.2e-7 (NFE)
Exomes Max Group AF 8.7e-7 (NFE)
ClinVar RCV:
RCV000018687
RCV000018688
ClinVar Variation:
17148
dbSNP:
80358192
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.36098332A>C , CM000663.2:g.36098332A>C GRCh38
NC_000001.10:g.36563933A>C , CM000663.1:g.36563933A>C GRCh37
NC_000001.9:g.36336520A>C NCBI36
NG_016245.2:g.31753T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000397799.2:c.1349T>G MANE Select ENSP00000380901.1:p.Leu450Trp
ENST00000303143.9:c.1349T>G ENSP00000305913.4:p.Leu450Trp
ENST00000397799.1:c.1349T>G ENSP00000380901.1:p.Leu450Trp
ENST00000481785.1:c.1154T>G ENSP00000436433.1:p.Leu385Trp
ENST00000615990.1:c.773-252T>G ENSP00000484406.1:n.773-252T>G
NM_001294347.1:c.1154T>G NP_001281276.1:p.Leu385Trp
NM_005202.3:c.1349T>G NP_005193.1:p.Leu450Trp
XM_005270477.2:c.1580T>G XP_005270534.1:p.Leu527Trp
XM_005270477.3:c.1580T>G XP_005270534.1:p.Leu527Trp
NM_005202.4:c.1349T>G MANE Select NP_005193.1:p.Leu450Trp
NM_001294347.2:c.1154T>G NP_001281276.1:p.Leu385Trp
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