Canonical Allele Identifier: CA15876538
Gene: BBS2 HGNC NCBI
MT4 HGNC NCBI
COSMIC:
COSN15323120 (not active)
MyVariant.info:
GRCh38 chr16:g.56568704T>C
GRCh37 chr16:g.56602616T>C
gnomAD v2:
16:56602616 T / C
gnomAD v3:
16:56568704 T / C
gnomAD v4:
chr16-56568704-T-C
Joint Max Group AF 0.32006621 (AFR)
Genomes Max Group AF 0.31865806 (AFR)
Exomes Max Group AF 0.31860156 (AFR)
dbSNP:
396230
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56568704T>C , CM000678.2:g.56568704T>C GRCh38
NC_000016.9:g.56602616T>C , CM000678.1:g.56602616T>C GRCh37
NC_000016.8:g.55160117T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000682930.1:c.42+1971A>G (BBS2) ENSP00000507981.1:n.42+1971A>G
ENST00000219162.4:c.98-137T>C (MT4) MANE Select ENSP00000219162.3:n.98-137T>C
ENST00000219162.3:c.98-137T>C (MT4) ENSP00000219162.3:n.98-137T>C
NM_032935.2:c.98-137T>C (MT4) NP_116324.1:n.98-137T>C
NM_032935.3:c.98-137T>C (MT4) MANE Select NP_116324.2:n.98-137T>C
Search 100 bp 5'
Search 100 bp 3'