Canonical Allele Identifier: CA10588337
Gene: ABCA12 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.215064204C>G
GRCh37 chr2:g.215928927C>G
Revel Score:
ENST00000272895 (MANE Select) 0.701
gnomAD v3:
2:215064204 C / G
gnomAD v4:
chr2-215064204-C-G
Joint Max Group AF 0.00000615 (NFE)
Genomes Max Group AF 0.00000489 (NFE)
Exomes Max Group AF 0.00000531 (NFE)
ClinVar RCV:
RCV000256128
RCV002509340
ClinVar Variation:
264998
dbSNP:
762065937
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000272895.12:c.179G>C MANE Select ENSP00000272895.7:p.Arg60Pro
ENST00000272895.11:c.179G>C ENSP00000272895.7:p.Arg60Pro
NM_173076.2:c.179G>C NP_775099.2:p.Arg60Pro
NR_103740.1:n.399G>C
XM_011510951.1:c.179G>C XP_011509253.1:p.Arg60Pro
XM_011510952.1:c.179G>C XP_011509254.1:p.Arg60Pro
XM_011510951.2:c.179G>C XP_011509253.1:p.Arg60Pro
NM_173076.3:c.179G>C MANE Select NP_775099.2:p.Arg60Pro
NR_103740.2:n.597G>C
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