Canonical Allele Identifier: CA2090634

Gene: ABCA12 SNHG31

Linked Data

• ClinVar Variation Id: 419453
• ClinVar RCV Id: RCV000480311 ; RCV000677681 ; RCV002231097
• dbSNP Id: rs199503269
• ExAC: 2:215802332 G / A
• gnomAD v2: 2-215802332-G-A
• gnomAD v3: 2-214937608-G-A
• gnomAD v4: 2-214937608-G-A
• COSMIC: COSM1405230 ; COSM4309444
• MyVariant Identifiers: chr2:g.215802332G>A (hg19) ; chr2:g.214937608G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214937608G>A , CM000664.2:g.214937608G>A	GRCh38
NC_000002.11:g.215802332G>A , CM000664.1:g.215802332G>A	GRCh37
NC_000002.10:g.215510577G>A	NCBI36
NG_007074.1:g.205820C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.7444C>T (ABCA12) MANE Select	ENSP00000272895.7:p.Arg2482Ter
ENST00000272895.11:c.7444C>T (ABCA12)	ENSP00000272895.7:p.Arg2482Ter
ENST00000389661.4:c.6490C>T (ABCA12)	ENSP00000374312.4:p.Arg2164Ter
NM_015657.3:c.6490C>T (ABCA12)	NP_056472.2:p.Arg2164Ter
NM_173076.2:c.7444C>T (ABCA12)	NP_775099.2:p.Arg2482Ter
NR_103740.1:n.7744C>T (ABCA12)
NR_110292.1:n.322-10217G>A (SNHG31)
XM_011510951.1:c.7453C>T (ABCA12)	XP_011509253.1:p.Arg2485Ter
XM_011510951.2:c.7453C>T (ABCA12)	XP_011509253.1:p.Arg2485Ter
NM_173076.3:c.7444C>T (ABCA12) MANE Select	NP_775099.2:p.Arg2482Ter
NR_103740.2:n.7942C>T (ABCA12)
NM_015657.4:c.6490C>T (ABCA12)	NP_056472.2:p.Arg2164Ter