Canonical Allele Identifier: CA6042623
Gene: SCGB2A1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.62210533T>C
GRCh37 chr11:g.61978005T>C
Revel Score:
ENST00000244930 (MANE Select) 0.017
gnomAD v2:
11:61978005 T / C
gnomAD v3:
11:62210533 T / C
gnomAD v4:
chr11-62210533-T-C
Joint Max Group AF 0.00025242 (AMR)
Genomes Max Group AF 0.00003762 (NFE)
Exomes Max Group AF 0.00030721 (AMR)
ClinVar RCV:
RCV004242923
ClinVar Variation:
2412263
dbSNP:
754283100
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.62210533T>C , CM000673.2:g.62210533T>C GRCh38
NC_000011.9:g.61978005T>C , CM000673.1:g.61978005T>C GRCh37
NC_000011.8:g.61734581T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000244930.6:c.176T>C MANE Select ENSP00000244930.4:p.Met59Thr
ENST00000244930.5:c.176T>C ENSP00000244930.4:p.Met59Thr
NM_002407.2:c.176T>C NP_002398.1:p.Met59Thr
NM_002407.3:c.176T>C MANE Select NP_002398.1:p.Met59Thr
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