Canonical Allele Identifier: CA10995152
Gene: ALKAL2 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.279705C>T
GRCh37 chr2:g.279705C>T
gnomAD v2:
2:279705 C / T
gnomAD v3:
2:279705 C / T
gnomAD v4:
chr2-279705-C-T
Joint Max Group AF 0.58107004 (EAS)
Genomes Max Group AF 0.5740391 (EAS)
Exomes Max Group AF 0.58873453 (EAS)
dbSNP:
3828329
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.279705C>T , CM000664.2:g.279705C>T GRCh38
NC_000002.11:g.279705C>T , CM000664.1:g.279705C>T GRCh37
NC_000002.10:g.269705C>T NCBI36
NG_012035.1:g.19837C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000403610.9:c.*442G>A MANE Select ENSP00000384604.3:n.*442G>A
ENST00000403610.8:c.*442G>A ENSP00000384604.3:n.*442G>A
NM_001002919.2:c.*442G>A NP_001002919.2:n.*442G>A
XM_005264689.3:c.*442G>A XP_005264746.1:n.*442G>A
XM_006711879.2:c.*442G>A XP_006711942.1:n.*442G>A
XM_006711881.2:c.*442G>A XP_006711944.1:n.*442G>A
XM_011510342.1:c.*442G>A XP_011508644.1:n.*442G>A
XM_005264689.5:c.*442G>A XP_005264746.1:n.*442G>A
XM_006711879.4:c.*442G>A XP_006711942.1:n.*442G>A
XM_011510342.3:c.*442G>A XP_011508644.1:n.*442G>A
NM_001002919.3:c.*442G>A MANE Select NP_001002919.2:n.*442G>A
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