Canonical Allele Identifier: CA14419905
Gene: ASIC2 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.33013372T>C
GRCh37 chr17:g.31340390T>C
gnomAD v2:
17:31340390 T / C
gnomAD v3:
17:33013372 T / C
gnomAD v4:
chr17-33013372-T-C
Joint Max Group AF 0.72562389 (AFR)
Genomes Max Group AF 0.72566347 (AFR)
Exomes Max Group AF 0.33908718 (AFR)
dbSNP:
28936
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.33013372T>C , CM000679.2:g.33013372T>C GRCh38
NC_000017.10:g.31340390T>C , CM000679.1:g.31340390T>C GRCh37
NC_000017.9:g.28364503T>C NCBI36
NG_029763.1:g.1148436A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000225823.7:c.*593A>G MANE Select ENSP00000225823.2:n.*593A>G
ENST00000225823.6:c.*593A>G ENSP00000225823.2:n.*593A>G
ENST00000359872.6:c.*593A>G ENSP00000352934.6:n.*593A>G
NM_001094.4:c.*593A>G NP_001085.2:n.*593A>G
NM_183377.1:c.*593A>G NP_899233.1:n.*593A>G
NM_001094.5:c.*593A>G NP_001085.2:n.*593A>G
NM_183377.2:c.*593A>G MANE Select NP_899233.1:n.*593A>G
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