Canonical Allele Identifier: CA350792333

Gene: ABCA12 SNHG31

Linked Data

• MyVariant Identifiers: chr2:g.215797378C>A (hg19) ; chr2:g.214932654C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214932654C>A , CM000664.2:g.214932654C>A	GRCh38
NC_000002.11:g.215797378C>A , CM000664.1:g.215797378C>A	GRCh37
NC_000002.10:g.215505623C>A	NCBI36
NG_007074.1:g.210774G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000272895.12:c.7768G>T (ABCA12) MANE Select	ENSP00000272895.7:p.Asp2590Tyr
ENST00000272895.11:c.7768G>T (ABCA12)	ENSP00000272895.7:p.Asp2590Tyr
ENST00000389661.4:c.6814G>T (ABCA12)	ENSP00000374312.4:p.Asp2272Tyr
NM_015657.3:c.6814G>T (ABCA12)	NP_056472.2:p.Asp2272Tyr
NM_173076.2:c.7768G>T (ABCA12)	NP_775099.2:p.Asp2590Tyr
NR_103740.1:n.8068G>T (ABCA12)
NR_110292.1:n.322-15171C>A (SNHG31)
XM_011510951.1:c.7777G>T (ABCA12)	XP_011509253.1:p.Asp2593Tyr
XM_011510951.2:c.7777G>T (ABCA12)	XP_011509253.1:p.Asp2593Tyr
NM_173076.3:c.7768G>T (ABCA12) MANE Select	NP_775099.2:p.Asp2590Tyr
NR_103740.2:n.8266G>T (ABCA12)
NM_015657.4:c.6814G>T (ABCA12)	NP_056472.2:p.Asp2272Tyr