Canonical Allele Identifier: CA2091433
Gene: ABCA12 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.214980609G>A
GRCh37 chr2:g.215845333G>A
gnomAD v2:
2:215845333 G / A
gnomAD v3:
2:214980609 G / A
gnomAD v4:
chr2-214980609-G-A
Joint Max Group AF 0.00673507 (SAS)
Genomes Max Group AF 0.00483079 (SAS)
Exomes Max Group AF 0.00675254 (SAS)
ClinVar RCV:
RCV000931696
RCV003925801
ClinVar Variation:
754377
dbSNP:
540623115
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214980609G>A , CM000664.2:g.214980609G>A GRCh38
NC_000002.11:g.215845333G>A , CM000664.1:g.215845333G>A GRCh37
NC_000002.10:g.215553578G>A NCBI36
NG_007074.1:g.162819C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000272895.12:c.4614C>T MANE Select ENSP00000272895.7:p.Asp1538=
ENST00000272895.11:c.4614C>T ENSP00000272895.7:p.Asp1538=
ENST00000389661.4:c.3660C>T ENSP00000374312.4:p.Asp1220=
NM_015657.3:c.3660C>T NP_056472.2:p.Asp1220=
NM_173076.2:c.4614C>T NP_775099.2:p.Asp1538=
NR_103740.1:n.4914C>T
XM_011510951.1:c.4623C>T XP_011509253.1:p.Asp1541=
XM_011510952.1:c.4623C>T XP_011509254.1:p.Asp1541=
XM_011510951.2:c.4623C>T XP_011509253.1:p.Asp1541=
NM_173076.3:c.4614C>T MANE Select NP_775099.2:p.Asp1538=
NR_103740.2:n.5112C>T
NM_015657.4:c.3660C>T NP_056472.2:p.Asp1220=
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