Canonical Allele Identifier: CA15453314
Gene: C2 HGNC NCBI
ZBTB12 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.31899476C>T
GRCh37 chr6:g.31867253C>T
gnomAD v2:
6:31867253 C / T
gnomAD v3:
6:31899476 C / T
gnomAD v4:
chr6-31899476-C-T
Joint Max Group AF 0.14043096 (AFR)
Genomes Max Group AF 0.14070437 (AFR)
Exomes Max Group AF 0.08178037 (AFR)
dbSNP:
9267663
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31899476C>T , CM000668.2:g.31899476C>T GRCh38
NC_000006.11:g.31867253C>T , CM000668.1:g.31867253C>T GRCh37
NC_000006.10:g.31975232C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000497706.6:c.-64+1534C>T (C2) ENSP00000417482.2:n.-64+1534C>T
ENST00000695637.1:c.-360+1201C>T (C2) ENSP00000512074.1:n.-360+1201C>T
ENST00000469372.5:c.-64+1534C>T (C2) ENSP00000418923.1:n.-64+1534C>T
ENST00000497706.5:c.-64+1534C>T (C2) ENSP00000417482.1:n.-64+1534C>T
NM_001282457.1:c.-64+1534C>T (C2) NP_001269386.1:n.-64+1534C>T
XM_011514383.1:c.*450G>A (ZBTB12) XP_011512685.1:n.*450G>A
XM_011514383.2:c.*450G>A (ZBTB12) XP_011512685.2:n.*450G>A
NM_001282457.2:c.-64+1534C>T (C2) NP_001269386.1:n.-64+1534C>T
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