Canonical Allele Identifier: CA252477
Gene: ABCA12 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.214982225C>T
GRCh37 chr2:g.215846949C>T
Revel Score:
ENST00000272895 (MANE Select) 0.938
ENST00000389661 0.938
gnomAD v2:
2:215846949 C / T
gnomAD v3:
2:214982225 C / T
gnomAD v4:
chr2-214982225-C-T
Joint Max Group AF 0.00000444 (AFR)
Exomes Max Group AF 3e-7 (NFE)
ClinVar RCV:
RCV000002991
RCV003407261
ClinVar Variation:
2857
dbSNP:
28940270
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214982225C>T , CM000664.2:g.214982225C>T GRCh38
NC_000002.11:g.215846949C>T , CM000664.1:g.215846949C>T GRCh37
NC_000002.10:g.215555194C>T NCBI36
NG_007074.1:g.161203G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000272895.12:c.4541G>A MANE Select ENSP00000272895.7:p.Arg1514His
ENST00000272895.11:c.4541G>A ENSP00000272895.7:p.Arg1514His
ENST00000389661.4:c.3587G>A ENSP00000374312.4:p.Arg1196His
NM_015657.3:c.3587G>A NP_056472.2:p.Arg1196His
NM_173076.2:c.4541G>A NP_775099.2:p.Arg1514His
NR_103740.1:n.4841G>A
XM_011510951.1:c.4550G>A XP_011509253.1:p.Arg1517His
XM_011510952.1:c.4550G>A XP_011509254.1:p.Arg1517His
XM_011510951.2:c.4550G>A XP_011509253.1:p.Arg1517His
NM_173076.3:c.4541G>A MANE Select NP_775099.2:p.Arg1514His
NR_103740.2:n.5039G>A
NM_015657.4:c.3587G>A NP_056472.2:p.Arg1196His
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