Canonical Allele Identifier: CA252481
Gene: ABCA12 HGNC NCBI
SNHG31 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.214948607C>T
GRCh37 chr2:g.215813331C>T
Revel Score:
ENST00000272895 (MANE Select) 0.337
ENST00000389661 0.337
gnomAD v2:
2:215813331 C / T
gnomAD v3:
2:214948607 C / T
gnomAD v4:
chr2-214948607-C-T
Joint Max Group AF 0.02962691 (NFE)
Genomes Max Group AF 0.02788805 (NFE)
Exomes Max Group AF 0.02967535 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214948607C>T , CM000664.2:g.214948607C>T GRCh38
NC_000002.11:g.215813331C>T , CM000664.1:g.215813331C>T GRCh37
NC_000002.10:g.215521576C>T NCBI36
NG_007074.1:g.194821G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000272895.12:c.7093G>A (ABCA12) MANE Select ENSP00000272895.7:p.Asp2365Asn
ENST00000272895.11:c.7093G>A (ABCA12) ENSP00000272895.7:p.Asp2365Asn
ENST00000389661.4:c.6139G>A (ABCA12) ENSP00000374312.4:p.Asp2047Asn
NM_015657.3:c.6139G>A (ABCA12) NP_056472.2:p.Asp2047Asn
NM_173076.2:c.7093G>A (ABCA12) NP_775099.2:p.Asp2365Asn
NR_103740.1:n.7393G>A (ABCA12)
NR_110292.1:n.444+660C>T (SNHG31)
XM_011510951.1:c.7102G>A (ABCA12) XP_011509253.1:p.Asp2368Asn
XM_011510951.2:c.7102G>A (ABCA12) XP_011509253.1:p.Asp2368Asn
NM_173076.3:c.7093G>A (ABCA12) MANE Select NP_775099.2:p.Asp2365Asn
NR_103740.2:n.7591G>A (ABCA12)
NM_015657.4:c.6139G>A (ABCA12) NP_056472.2:p.Asp2047Asn
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