Canonical Allele Identifier: CA2092625
Gene: ABCA12 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.215064204C>T
GRCh37 chr2:g.215928927C>T
Revel Score:
ENST00000272895 (MANE Select) 0.495
gnomAD v2:
2:215928927 C / T
gnomAD v3:
2:215064204 C / T
gnomAD v4:
chr2-215064204-C-T
Joint Max Group AF 0.00002554 (AFR)
Genomes Max Group AF 0.00005318 (AMR)
Exomes Max Group AF 0.00002381 (AFR)
ClinVar RCV:
RCV003717118
ClinVar Variation:
2885168
dbSNP:
762065937
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.215064204C>T , CM000664.2:g.215064204C>T GRCh38
NC_000002.11:g.215928927C>T , CM000664.1:g.215928927C>T GRCh37
NC_000002.10:g.215637172C>T NCBI36
NG_007074.1:g.79225G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000272895.12:c.179G>A MANE Select ENSP00000272895.7:p.Arg60Gln
ENST00000272895.11:c.179G>A ENSP00000272895.7:p.Arg60Gln
NM_173076.2:c.179G>A NP_775099.2:p.Arg60Gln
NR_103740.1:n.399G>A
XM_011510951.1:c.179G>A XP_011509253.1:p.Arg60Gln
XM_011510952.1:c.179G>A XP_011509254.1:p.Arg60Gln
XM_011510951.2:c.179G>A XP_011509253.1:p.Arg60Gln
NM_173076.3:c.179G>A MANE Select NP_775099.2:p.Arg60Gln
NR_103740.2:n.597G>A
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