Canonical Allele Identifier: CA539752178

Gene: ABCA12 SNHG31

Linked Data

• dbSNP Id: rs1475986771
• gnomAD v2: 2-215809671-C-T
• gnomAD v3: 2-214944947-C-T
• gnomAD v4: 2-214944947-C-T
• MyVariant Identifiers: chr2:g.215809671C>T (hg19) ; chr2:g.214944947C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214944947C>T , CM000664.2:g.214944947C>T	GRCh38
NC_000002.11:g.215809671C>T , CM000664.1:g.215809671C>T	GRCh37
NC_000002.10:g.215517916C>T	NCBI36
NG_007074.1:g.198481G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000272895.12:c.7343+54G>A (ABCA12) MANE Select	ENSP00000272895.7:n.7343+54G>A
ENST00000272895.11:c.7343+54G>A (ABCA12)	ENSP00000272895.7:n.7343+54G>A
ENST00000389661.4:c.6389+54G>A (ABCA12)	ENSP00000374312.4:n.6389+54G>A
NM_015657.3:c.6389+54G>A (ABCA12)	NP_056472.2:n.6389+54G>A
NM_173076.2:c.7343+54G>A (ABCA12)	NP_775099.2:n.7343+54G>A
NR_103740.1:n.7643+54G>A (ABCA12)
NR_110292.1:n.322-2878C>T (SNHG31)
XM_011510951.1:c.7352+54G>A (ABCA12)	XP_011509253.1:n.7352+54G>A
XM_011510951.2:c.7352+54G>A (ABCA12)	XP_011509253.1:n.7352+54G>A
NM_173076.3:c.7343+54G>A (ABCA12) MANE Select	NP_775099.2:n.7343+54G>A
NR_103740.2:n.7841+54G>A (ABCA12)
NM_015657.4:c.6389+54G>A (ABCA12)	NP_056472.2:n.6389+54G>A