Canonical Allele Identifier: CA2090569

Gene: ABCA12 SNHG31

Linked Data

• ClinVar Variation Id: 931786
• ClinVar RCV Id: RCV001198679 ; RCV002491597 ; RCV004033481
• dbSNP Id: rs199846944
• ExAC: 2:215797431 T / C
• gnomAD v2: 2-215797431-T-C
• gnomAD v3: 2-214932707-T-C
• gnomAD v4: 2-214932707-T-C
• COSMIC: COSM4309428 ; COSM4309429
• MyVariant Identifiers: chr2:g.215797431T>C (hg19) ; chr2:g.214932707T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214932707T>C , CM000664.2:g.214932707T>C	GRCh38
NC_000002.11:g.215797431T>C , CM000664.1:g.215797431T>C	GRCh37
NC_000002.10:g.215505676T>C	NCBI36
NG_007074.1:g.210721A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.7715A>G (ABCA12) MANE Select	ENSP00000272895.7:p.Tyr2572Cys
ENST00000272895.11:c.7715A>G (ABCA12)	ENSP00000272895.7:p.Tyr2572Cys
ENST00000389661.4:c.6761A>G (ABCA12)	ENSP00000374312.4:p.Tyr2254Cys
NM_015657.3:c.6761A>G (ABCA12)	NP_056472.2:p.Tyr2254Cys
NM_173076.2:c.7715A>G (ABCA12)	NP_775099.2:p.Tyr2572Cys
NR_103740.1:n.8015A>G (ABCA12)
NR_110292.1:n.322-15118T>C (SNHG31)
XM_011510951.1:c.7724A>G (ABCA12)	XP_011509253.1:p.Tyr2575Cys
XM_011510951.2:c.7724A>G (ABCA12)	XP_011509253.1:p.Tyr2575Cys
NM_173076.3:c.7715A>G (ABCA12) MANE Select	NP_775099.2:p.Tyr2572Cys
NR_103740.2:n.8213A>G (ABCA12)
NM_015657.4:c.6761A>G (ABCA12)	NP_056472.2:p.Tyr2254Cys