Canonical Allele Identifier: CA539750153

Gene: ABCA12 SNHG31

Linked Data

• dbSNP Id: rs1367009523
• gnomAD v2: 2-215796786-C-T
• gnomAD v3: 2-214932062-C-T
• gnomAD v4: 2-214932062-C-T
• MyVariant Identifiers: chr2:g.215796786C>T (hg19) ; chr2:g.214932062C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214932062C>T , CM000664.2:g.214932062C>T	GRCh38
NC_000002.11:g.215796786C>T , CM000664.1:g.215796786C>T	GRCh37
NC_000002.10:g.215505031C>T	NCBI36
NG_007074.1:g.211366G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.*572G>A (ABCA12) MANE Select	ENSP00000272895.7:n.*572G>A
ENST00000272895.11:c.*572G>A (ABCA12)	ENSP00000272895.7:n.*572G>A
NM_015657.3:c.*572G>A (ABCA12)	NP_056472.2:n.*572G>A
NM_173076.2:c.*572G>A (ABCA12)	NP_775099.2:n.*572G>A
NR_103740.1:n.8660G>A (ABCA12)
NR_110292.1:n.322-15763C>T (SNHG31)
XM_011510951.1:c.*572G>A (ABCA12)	XP_011509253.1:n.*572G>A
XM_011510951.2:c.*572G>A (ABCA12)	XP_011509253.1:n.*572G>A
NM_173076.3:c.*572G>A (ABCA12) MANE Select	NP_775099.2:n.*572G>A
NR_103740.2:n.8858G>A (ABCA12)
NM_015657.4:c.*572G>A (ABCA12)	NP_056472.2:n.*572G>A