Canonical Allele Identifier: CA2092437
Gene: ABCA12 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.215045850G>C
GRCh37 chr2:g.215910574G>C
Revel Score:
ENST00000272895 (MANE Select) 0.244
gnomAD v2:
2:215910574 G / C
gnomAD v3:
2:215045850 G / C
gnomAD v4:
chr2-215045850-G-C
Joint Max Group AF 0.11823443 (AFR)
Genomes Max Group AF 0.1175813 (AFR)
Exomes Max Group AF 0.117134 (AFR)
ClinVar RCV:
RCV000224893
RCV000293566
ClinVar Variation:
235771
dbSNP:
11891778
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.215045850G>C , CM000664.2:g.215045850G>C GRCh38
NC_000002.11:g.215910574G>C , CM000664.1:g.215910574G>C GRCh37
NC_000002.10:g.215618819G>C NCBI36
NG_007074.1:g.97578C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000272895.12:c.859C>G MANE Select ENSP00000272895.7:p.Arg287Gly
ENST00000272895.11:c.859C>G ENSP00000272895.7:p.Arg287Gly
NM_173076.2:c.859C>G NP_775099.2:p.Arg287Gly
NR_103740.1:n.1103C>G
XM_011510951.1:c.859C>G XP_011509253.1:p.Arg287Gly
XM_011510952.1:c.859C>G XP_011509254.1:p.Arg287Gly
XM_011510951.2:c.859C>G XP_011509253.1:p.Arg287Gly
NM_173076.3:c.859C>G MANE Select NP_775099.2:p.Arg287Gly
NR_103740.2:n.1301C>G
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