Canonical Allele Identifier: CA764960
Gene: COL8A2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.36098332A>G
GRCh37 chr1:g.36563933A>G
Revel Score:
ENST00000303143 0.247
ENST00000397799 (MANE Select) 0.247
ENST00000481785 0.247
gnomAD v2:
1:36563933 A / G
gnomAD v3:
1:36098332 A / G
gnomAD v4:
chr1-36098332-A-G
Joint Max Group AF 0.00043757 (AFR)
Genomes Max Group AF 0.00035954 (AFR)
Exomes Max Group AF 0.00041904 (AFR)
dbSNP:
80358192
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000397799.2:c.1349T>C MANE Select ENSP00000380901.1:p.Leu450Ser
ENST00000303143.9:c.1349T>C ENSP00000305913.4:p.Leu450Ser
ENST00000397799.1:c.1349T>C ENSP00000380901.1:p.Leu450Ser
ENST00000481785.1:c.1154T>C ENSP00000436433.1:p.Leu385Ser
ENST00000615990.1:c.773-252T>C ENSP00000484406.1:n.773-252T>C
NM_001294347.1:c.1154T>C NP_001281276.1:p.Leu385Ser
NM_005202.3:c.1349T>C NP_005193.1:p.Leu450Ser
XM_005270477.2:c.1580T>C XP_005270534.1:p.Leu527Ser
XM_005270477.3:c.1580T>C XP_005270534.1:p.Leu527Ser
NM_005202.4:c.1349T>C MANE Select NP_005193.1:p.Leu450Ser
NM_001294347.2:c.1154T>C NP_001281276.1:p.Leu385Ser
Search 100 bp 5'
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