Canonical Allele Identifier: CA10614088
Gene: ABCA12 HGNC NCBI
SNHG31 HGNC NCBI

Linked Data

ClinVar Variation Id: 334212
ClinVar RCV Id: RCV000277151
dbSNP Id: rs139753893
gnomAD v2: 2-215796818-A-AC
gnomAD v3: 2-214932094-A-AC
gnomAD v4: 2-214932094-A-AC
MyVariant Identifiers: chr2:g.215796819dupC (hg19) chr2:g.215796818_215796819insC (hg19) chr2:g.214932095dupC (hg38) chr2:g.214932094_214932095insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214932095dup , CM000664.2:g.214932095dup GRCh38
NC_000002.11:g.215796819dup , CM000664.1:g.215796819dup GRCh37
NC_000002.10:g.215505064dup NCBI36
NG_007074.1:g.211333dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000272895.12:c.*539dup (ABCA12) MANE Select ENSP00000272895.7:n.*539dup
ENST00000272895.11:c.*539dup (ABCA12) ENSP00000272895.7:n.*539dup
NM_015657.3:c.*539dup (ABCA12) NP_056472.2:n.*539dup
NM_173076.2:c.*539dup (ABCA12) NP_775099.2:n.*539dup
NR_103740.1:n.8627dup (ABCA12)
NR_110292.1:n.322-15730dup (SNHG31)
XM_011510951.1:c.*539dup (ABCA12) XP_011509253.1:n.*539dup
XM_011510951.2:c.*539dup (ABCA12) XP_011509253.1:n.*539dup
NM_173076.3:c.*539dup (ABCA12) MANE Select NP_775099.2:n.*539dup
NR_103740.2:n.8825dup (ABCA12)
NM_015657.4:c.*539dup (ABCA12) NP_056472.2:n.*539dup
Search 100 bp 5'
Search 100 bp 3'