Canonical Allele Identifier: CA350793600

Gene: ABCA12 SNHG31

Linked Data

• dbSNP Id: rs2105920344
• gnomAD v3: 2-214945025-C-A
• gnomAD v4: 2-214945025-C-A
• MyVariant Identifiers: chr2:g.215809749C>A (hg19) ; chr2:g.214945025C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214945025C>A , CM000664.2:g.214945025C>A	GRCh38
NC_000002.11:g.215809749C>A , CM000664.1:g.215809749C>A	GRCh37
NC_000002.10:g.215517994C>A	NCBI36
NG_007074.1:g.198403G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000272895.12:c.7319G>T (ABCA12) MANE Select	ENSP00000272895.7:p.Cys2440Phe
ENST00000272895.11:c.7319G>T (ABCA12)	ENSP00000272895.7:p.Cys2440Phe
ENST00000389661.4:c.6365G>T (ABCA12)	ENSP00000374312.4:p.Cys2122Phe
NM_015657.3:c.6365G>T (ABCA12)	NP_056472.2:p.Cys2122Phe
NM_173076.2:c.7319G>T (ABCA12)	NP_775099.2:p.Cys2440Phe
NR_103740.1:n.7619G>T (ABCA12)
NR_110292.1:n.322-2800C>A (SNHG31)
XM_011510951.1:c.7328G>T (ABCA12)	XP_011509253.1:p.Cys2443Phe
XM_011510951.2:c.7328G>T (ABCA12)	XP_011509253.1:p.Cys2443Phe
NM_173076.3:c.7319G>T (ABCA12) MANE Select	NP_775099.2:p.Cys2440Phe
NR_103740.2:n.7817G>T (ABCA12)
NM_015657.4:c.6365G>T (ABCA12)	NP_056472.2:p.Cys2122Phe