Canonical Allele Identifier: CA12525516
Gene: SLC4A2 HGNC NCBI
CDK5 HGNC NCBI
COSMIC:
COSN14891288 (not active)
MyVariant.info:
GRCh38 chr7:g.151058118G>C
GRCh37 chr7:g.150755205G>C
gnomAD v2:
7:150755205 G / C
gnomAD v3:
7:151058118 G / C
gnomAD v4:
chr7-151058118-G-C
Joint Max Group AF 0.45514153 (AMR)
Genomes Max Group AF 0.41505238 (AMR)
Exomes Max Group AF 0.49802989 (AMR)
dbSNP:
2069442
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.151058118G>C , CM000669.2:g.151058118G>C GRCh38
NC_000007.13:g.150755205G>C , CM000669.1:g.150755205G>C GRCh37
NC_000007.12:g.150386138G>C NCBI36
NG_042167.1:g.4848C>G
NG_051947.1:g.4919G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000483786.5:c.-64+837G>C (SLC4A2) ENSP00000417808.1:n.-64+837G>C
ENST00000485972.5:c.-270C>G (CDK5) ENSP00000419782.1:n.-270C>G
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