Canonical Allele Identifier: CA2091944
Gene: ABCA12 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.215007788T>C
GRCh37 chr2:g.215872512T>C
Revel Score:
ENST00000272895 (MANE Select) 0.507
ENST00000389661 0.507
gnomAD v2:
2:215872512 T / C
gnomAD v4:
chr2-215007788-T-C
Joint Max Group AF 6.8e-7 (NFE)
Exomes Max Group AF 7.2e-7 (NFE)
ClinVar Allele:
259722
ClinVar RCV:
RCV000255774
ClinVar Variation:
265003
dbSNP:
756771290
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.215007788T>C , CM000664.2:g.215007788T>C GRCh38
NC_000002.11:g.215872512T>C , CM000664.1:g.215872512T>C GRCh37
NC_000002.10:g.215580757T>C NCBI36
NG_007074.1:g.135640A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000272895.12:c.2531A>G MANE Select ENSP00000272895.7:p.Asp844Gly
ENST00000272895.11:c.2531A>G ENSP00000272895.7:p.Asp844Gly
ENST00000389661.4:c.1577A>G ENSP00000374312.4:p.Asp526Gly
NM_015657.3:c.1577A>G NP_056472.2:p.Asp526Gly
NM_173076.2:c.2531A>G NP_775099.2:p.Asp844Gly
NR_103740.1:n.2775A>G
XM_011510951.1:c.2531A>G XP_011509253.1:p.Asp844Gly
XM_011510952.1:c.2531A>G XP_011509254.1:p.Asp844Gly
XM_011510951.2:c.2531A>G XP_011509253.1:p.Asp844Gly
NM_173076.3:c.2531A>G MANE Select NP_775099.2:p.Asp844Gly
NR_103740.2:n.2973A>G
NM_015657.4:c.1577A>G NP_056472.2:p.Asp526Gly
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