Canonical Allele Identifier: CA2092485
Gene: ABCA12 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.215049692T>G
GRCh37 chr2:g.215914416T>G
Revel Score:
ENST00000272895 (MANE Select) 0.113
gnomAD v2:
2:215914416 T / G
gnomAD v3:
2:215049692 T / G
gnomAD v4:
chr2-215049692-T-G
Joint Max Group AF 0.00029865 (AFR)
Genomes Max Group AF 0.00029976 (AFR)
Exomes Max Group AF 0.00020631 (AFR)
ClinVar RCV:
RCV000483672
ClinVar Variation:
424273
dbSNP:
149882663
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.215049692T>G , CM000664.2:g.215049692T>G GRCh38
NC_000002.11:g.215914416T>G , CM000664.1:g.215914416T>G GRCh37
NC_000002.10:g.215622661T>G NCBI36
NG_007074.1:g.93736A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000272895.12:c.627A>C MANE Select ENSP00000272895.7:p.Lys209Asn
ENST00000272895.11:c.627A>C ENSP00000272895.7:p.Lys209Asn
NM_173076.2:c.627A>C NP_775099.2:p.Lys209Asn
NR_103740.1:n.871A>C
XM_011510951.1:c.627A>C XP_011509253.1:p.Lys209Asn
XM_011510952.1:c.627A>C XP_011509254.1:p.Lys209Asn
XM_011510951.2:c.627A>C XP_011509253.1:p.Lys209Asn
NM_173076.3:c.627A>C MANE Select NP_775099.2:p.Lys209Asn
NR_103740.2:n.1069A>C
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