Canonical Allele Identifier: CA431319823
Gene: ABCA12 HGNC NCBI
SNHG31 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.215812221A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214947497A>T , CM000664.2:g.214947497A>T GRCh38
NC_000002.11:g.215812221A>T , CM000664.1:g.215812221A>T GRCh37
NC_000002.10:g.215520466A>T NCBI36
NG_007074.1:g.195931T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000272895.12:c.7164T>A (ABCA12) MANE Select ENSP00000272895.7:p.Ser2388=
ENST00000272895.11:c.7164T>A (ABCA12) ENSP00000272895.7:p.Ser2388=
ENST00000389661.4:c.6210T>A (ABCA12) ENSP00000374312.4:p.Ser2070=
NM_015657.3:c.6210T>A (ABCA12) NP_056472.2:p.Ser2070=
NM_173076.2:c.7164T>A (ABCA12) NP_775099.2:p.Ser2388=
NR_103740.1:n.7464T>A (ABCA12)
NR_110292.1:n.322-328A>T (SNHG31)
XM_011510951.1:c.7173T>A (ABCA12) XP_011509253.1:p.Ser2391=
XM_011510951.2:c.7173T>A (ABCA12) XP_011509253.1:p.Ser2391=
NM_173076.3:c.7164T>A (ABCA12) MANE Select NP_775099.2:p.Ser2388=
NR_103740.2:n.7662T>A (ABCA12)
NM_015657.4:c.6210T>A (ABCA12) NP_056472.2:p.Ser2070=