Canonical Allele Identifier: CA64844200
Gene: ABCA12 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.215011366A>C
GRCh37 chr2:g.215876090A>C
gnomAD v3:
2:215011366 A / C
gnomAD v4:
chr2-215011366-A-C
Joint Max Group AF 0.00204155 (MID)
Genomes Max Group AF 0.00159103 (SAS)
Exomes Max Group AF 0.00219825 (MID)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.215011366A>C , CM000664.2:g.215011366A>C GRCh38
NC_000002.11:g.215876090A>C , CM000664.1:g.215876090A>C GRCh37
NC_000002.10:g.215584335A>C NCBI36
NG_007074.1:g.132062T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000272895.12:c.2332+73T>G MANE Select ENSP00000272895.7:n.2332+73T>G
ENST00000272895.11:c.2332+73T>G ENSP00000272895.7:n.2332+73T>G
ENST00000389661.4:c.1378+73T>G ENSP00000374312.4:n.1378+73T>G
NM_015657.3:c.1378+73T>G NP_056472.2:n.1378+73T>G
NM_173076.2:c.2332+73T>G NP_775099.2:n.2332+73T>G
NR_103740.1:n.2576+73T>G
XM_011510951.1:c.2332+73T>G XP_011509253.1:n.2332+73T>G
XM_011510952.1:c.2332+73T>G XP_011509254.1:n.2332+73T>G
XM_011510951.2:c.2332+73T>G XP_011509253.1:n.2332+73T>G
NM_173076.3:c.2332+73T>G MANE Select NP_775099.2:n.2332+73T>G
NR_103740.2:n.2774+73T>G
NM_015657.4:c.1378+73T>G NP_056472.2:n.1378+73T>G
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