Canonical Allele Identifier: CA65501412

Gene: ABCA12 SNHG31

Linked Data

• dbSNP Id: rs577601816
• gnomAD v2: 2-215797252-A-ATTACT
• gnomAD v3: 2-214932528-A-ATTACT
• gnomAD v4: 2-214932528-A-ATTACT
• MyVariant Identifiers: chr2:g.215797252_215797253insTTACT (hg19) ; chr2:g.214932528_214932529insTTACT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214932537_214932541dup , CM000664.2:g.214932537_214932541dup	GRCh38
NC_000002.11:g.215797261_215797265dup , CM000664.1:g.215797261_215797265dup	GRCh37
NC_000002.10:g.215505506_215505510dup	NCBI36
NG_007074.1:g.210895_210899dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.*101_*105dup (ABCA12) MANE Select	ENSP00000272895.7:n.*101_*105dup
ENST00000272895.11:c.*101_*105dup (ABCA12)	ENSP00000272895.7:n.*101_*105dup
NM_015657.3:c.*101_*105dup (ABCA12)	NP_056472.2:n.*101_*105dup
NM_173076.2:c.*101_*105dup (ABCA12)	NP_775099.2:n.*101_*105dup
NR_103740.1:n.8189_8193dup (ABCA12)
NR_110292.1:n.322-15288_322-15284dup (SNHG31)
XM_011510951.1:c.*101_*105dup (ABCA12)	XP_011509253.1:n.*101_*105dup
XM_011510951.2:c.*101_*105dup (ABCA12)	XP_011509253.1:n.*101_*105dup
NM_173076.3:c.*101_*105dup (ABCA12) MANE Select	NP_775099.2:n.*101_*105dup
NR_103740.2:n.8387_8391dup (ABCA12)
NM_015657.4:c.*101_*105dup (ABCA12)	NP_056472.2:n.*101_*105dup