Canonical Allele Identifier: CA60700808
Gene:
COSMIC:
COSN17434176 (not active)
MyVariant.info:
GRCh38 chr2:g.171271410C>T
GRCh37 chr2:g.172127920C>T
gnomAD v2:
2:172127920 C / T
gnomAD v3:
2:171271410 C / T
gnomAD v4:
chr2-171271410-C-T
Joint Max Group AF 0.39487107 (EAS)
Genomes Max Group AF 0.39487107 (EAS)
dbSNP:
4667682
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.171271410C>T , CM000664.2:g.171271410C>T GRCh38
NC_000002.11:g.172127920C>T , CM000664.1:g.172127920C>T GRCh37
NC_000002.10:g.171836166C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_923572.1:n.1017-68G>A
XR_923573.1:n.130-68G>A
XR_923574.1:n.1017-68G>A
XR_923575.1:n.1017-68G>A
XR_001739772.1:n.130-68G>A
XR_923573.2:n.130-68G>A
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