Canonical Allele Identifier: CA350793936
Gene: ABCA12 HGNC NCBI
SNHG31 HGNC NCBI

Linked Data

ClinVar Variation Id: 427219
ClinVar RCV Id: RCV000490250
dbSNP Id: rs1085308032
gnomAD v4: 2-214947489-C-T
MyVariant Identifiers: chr2:g.215812213C>T (hg19) chr2:g.214947489C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214947489C>T , CM000664.2:g.214947489C>T GRCh38
NC_000002.11:g.215812213C>T , CM000664.1:g.215812213C>T GRCh37
NC_000002.10:g.215520458C>T NCBI36
NG_007074.1:g.195939G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000272895.12:c.7172G>A (ABCA12) MANE Select ENSP00000272895.7:p.Ser2391Asn
ENST00000272895.11:c.7172G>A (ABCA12) ENSP00000272895.7:p.Ser2391Asn
ENST00000389661.4:c.6218G>A (ABCA12) ENSP00000374312.4:p.Ser2073Asn
NM_015657.3:c.6218G>A (ABCA12) NP_056472.2:p.Ser2073Asn
NM_173076.2:c.7172G>A (ABCA12) NP_775099.2:p.Ser2391Asn
NR_103740.1:n.7472G>A (ABCA12)
NR_110292.1:n.322-336C>T (SNHG31)
XM_011510951.1:c.7181G>A (ABCA12) XP_011509253.1:p.Ser2394Asn
XM_011510951.2:c.7181G>A (ABCA12) XP_011509253.1:p.Ser2394Asn
NM_173076.3:c.7172G>A (ABCA12) MANE Select NP_775099.2:p.Ser2391Asn
NR_103740.2:n.7670G>A (ABCA12)
NM_015657.4:c.6218G>A (ABCA12) NP_056472.2:p.Ser2073Asn
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