Canonical Allele Identifier: CA11105647
Gene:
MyVariant.info:
GRCh38 chr2:g.638144G>T
GRCh37 chr2:g.638144G>T
gnomAD v2:
2:638144 G / T
gnomAD v3:
2:638144 G / T
gnomAD v4:
chr2-638144-G-T
Joint Max Group AF 0.89682416 (EAS)
Genomes Max Group AF 0.89682416 (EAS)
dbSNP:
4854344
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.638144G>T , CM000664.2:g.638144G>T GRCh38
NC_000002.11:g.638144G>T , CM000664.1:g.638144G>T GRCh37
NC_000002.10:g.628144G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XM_011510438.1:c.*572+760G>T XP_011508740.1:n.*572+760G>T
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Search 100 bp 3'