Canonical Allele Identifier: CA65502954

Gene: ABCA12 SNHG31

Linked Data

• dbSNP Id: rs957495468
• MyVariant Identifiers: chr2:g.215812220T>C (hg19) ; chr2:g.214947496T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214947496T>C , CM000664.2:g.214947496T>C	GRCh38
NC_000002.11:g.215812220T>C , CM000664.1:g.215812220T>C	GRCh37
NC_000002.10:g.215520465T>C	NCBI36
NG_007074.1:g.195932A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000272895.12:c.7165A>G (ABCA12) MANE Select	ENSP00000272895.7:p.Met2389Val
ENST00000272895.11:c.7165A>G (ABCA12)	ENSP00000272895.7:p.Met2389Val
ENST00000389661.4:c.6211A>G (ABCA12)	ENSP00000374312.4:p.Met2071Val
NM_015657.3:c.6211A>G (ABCA12)	NP_056472.2:p.Met2071Val
NM_173076.2:c.7165A>G (ABCA12)	NP_775099.2:p.Met2389Val
NR_103740.1:n.7465A>G (ABCA12)
NR_110292.1:n.322-329T>C (SNHG31)
XM_011510951.1:c.7174A>G (ABCA12)	XP_011509253.1:p.Met2392Val
XM_011510951.2:c.7174A>G (ABCA12)	XP_011509253.1:p.Met2392Val
NM_173076.3:c.7165A>G (ABCA12) MANE Select	NP_775099.2:p.Met2389Val
NR_103740.2:n.7663A>G (ABCA12)
NM_015657.4:c.6211A>G (ABCA12)	NP_056472.2:p.Met2071Val