Canonical Allele Identifier: CA350792327

Gene: ABCA12 SNHG31

Linked Data

• gnomAD v4: 2-214932651-C-A
• MyVariant Identifiers: chr2:g.215797375C>A (hg19) ; chr2:g.214932651C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214932651C>A , CM000664.2:g.214932651C>A	GRCh38
NC_000002.11:g.215797375C>A , CM000664.1:g.215797375C>A	GRCh37
NC_000002.10:g.215505620C>A	NCBI36
NG_007074.1:g.210777G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000272895.12:c.7771G>T (ABCA12) MANE Select	ENSP00000272895.7:p.Asp2591Tyr
ENST00000272895.11:c.7771G>T (ABCA12)	ENSP00000272895.7:p.Asp2591Tyr
ENST00000389661.4:c.6817G>T (ABCA12)	ENSP00000374312.4:p.Asp2273Tyr
NM_015657.3:c.6817G>T (ABCA12)	NP_056472.2:p.Asp2273Tyr
NM_173076.2:c.7771G>T (ABCA12)	NP_775099.2:p.Asp2591Tyr
NR_103740.1:n.8071G>T (ABCA12)
NR_110292.1:n.322-15174C>A (SNHG31)
XM_011510951.1:c.7780G>T (ABCA12)	XP_011509253.1:p.Asp2594Tyr
XM_011510951.2:c.7780G>T (ABCA12)	XP_011509253.1:p.Asp2594Tyr
NM_173076.3:c.7771G>T (ABCA12) MANE Select	NP_775099.2:p.Asp2591Tyr
NR_103740.2:n.8269G>T (ABCA12)
NM_015657.4:c.6817G>T (ABCA12)	NP_056472.2:p.Asp2273Tyr