Canonical Allele Identifier: CA539752549

Gene: ABCA12 SNHG31

Linked Data

• dbSNP Id: rs1296425844
• gnomAD v2: 2-215812130-A-G
• gnomAD v3: 2-214947406-A-G
• gnomAD v4: 2-214947406-A-G
• MyVariant Identifiers: chr2:g.215812130A>G (hg19) ; chr2:g.214947406A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214947406A>G , CM000664.2:g.214947406A>G	GRCh38
NC_000002.11:g.215812130A>G , CM000664.1:g.215812130A>G	GRCh37
NC_000002.10:g.215520375A>G	NCBI36
NG_007074.1:g.196022T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000272895.12:c.7239+16T>C (ABCA12) MANE Select	ENSP00000272895.7:n.7239+16T>C
ENST00000272895.11:c.7239+16T>C (ABCA12)	ENSP00000272895.7:n.7239+16T>C
ENST00000389661.4:c.6285+16T>C (ABCA12)	ENSP00000374312.4:n.6285+16T>C
NM_015657.3:c.6285+16T>C (ABCA12)	NP_056472.2:n.6285+16T>C
NM_173076.2:c.7239+16T>C (ABCA12)	NP_775099.2:n.7239+16T>C
NR_103740.1:n.7539+16T>C (ABCA12)
NR_110292.1:n.322-419A>G (SNHG31)
XM_011510951.1:c.7248+16T>C (ABCA12)	XP_011509253.1:n.7248+16T>C
XM_011510951.2:c.7248+16T>C (ABCA12)	XP_011509253.1:n.7248+16T>C
NM_173076.3:c.7239+16T>C (ABCA12) MANE Select	NP_775099.2:n.7239+16T>C
NR_103740.2:n.7737+16T>C (ABCA12)
NM_015657.4:c.6285+16T>C (ABCA12)	NP_056472.2:n.6285+16T>C