Canonical Allele Identifier: CA10721573
Gene: COL8A2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.36106319G>A
GRCh37 chr1:g.36571920G>A
gnomAD v2:
1:36571920 G / A
gnomAD v3:
1:36106319 G / A
gnomAD v4:
chr1-36106319-G-A
Joint Max Group AF 0.80044556 (NFE)
Genomes Max Group AF 0.80044556 (NFE)
dbSNP:
96067
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.36106319G>A , CM000663.2:g.36106319G>A GRCh38
NC_000001.10:g.36571920G>A , CM000663.1:g.36571920G>A GRCh37
NC_000001.9:g.36344507G>A NCBI36
NG_016245.2:g.23766C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000397799.2:c.-16-6061C>T MANE Select ENSP00000380901.1:n.-16-6061C>T
ENST00000397799.1:c.-16-6061C>T ENSP00000380901.1:n.-16-6061C>T
NM_001294347.1:c.-66-6061C>T NP_001281276.1:n.-66-6061C>T
NM_005202.3:c.-16-6061C>T NP_005193.1:n.-16-6061C>T
XM_005270477.2:c.216-6061C>T XP_005270534.1:n.216-6061C>T
XM_005270477.3:c.216-6061C>T XP_005270534.1:n.216-6061C>T
NM_005202.4:c.-16-6061C>T MANE Select NP_005193.1:n.-16-6061C>T
NM_001294347.2:c.-66-6061C>T NP_001281276.1:n.-66-6061C>T
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