Canonical Allele Identifier: CA16617465
Gene: ABCA12 HGNC NCBI
SNHG31 HGNC NCBI

Linked Data

ClinVar Variation Id: 419174
ClinVar RCV Id: RCV000479920
dbSNP Id: rs1064793695
MyVariant Identifiers: chr2:g.215797364_215797365del (hg19) chr2:g.214932640_214932641del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214932641_214932642del , CM000664.2:g.214932641_214932642del GRCh38
NC_000002.11:g.215797365_215797366del , CM000664.1:g.215797365_215797366del GRCh37
NC_000002.10:g.215505610_215505611del NCBI36
NG_007074.1:g.210787_210788del

Transcript Alleles

HGVS Amino-acid change
ENST00000272895.12:c.7781_7782del (ABCA12) MANE Select ENSP00000272895.7:p.Glu2594ValfsTer?
ENST00000272895.11:c.7781_7782del (ABCA12) ENSP00000272895.7:p.Glu2594ValfsTer?
ENST00000389661.4:c.6827_6828del (ABCA12) ENSP00000374312.4:p.Glu2276ValfsTer?
NM_015657.3:c.6827_6828del (ABCA12) NP_056472.2:p.Glu2276ValfsTer?
NM_173076.2:c.7781_7782del (ABCA12) NP_775099.2:p.Glu2594ValfsTer?
NR_103740.1:n.8081_8082del (ABCA12)
NR_110292.1:n.322-15184_322-15183del (SNHG31)
XM_011510951.1:c.7790_7791del (ABCA12) XP_011509253.1:p.Glu2597ValfsTer?
XM_011510951.2:c.7790_7791del (ABCA12) XP_011509253.1:p.Glu2597ValfsTer?
NM_173076.3:c.7781_7782del (ABCA12) MANE Select NP_775099.2:p.Glu2594ValfsTer?
NR_103740.2:n.8279_8280del (ABCA12)
NM_015657.4:c.6827_6828del (ABCA12) NP_056472.2:p.Glu2276ValfsTer?
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