Canonical Allele Identifier: CA65501362

Gene: ABCA12 SNHG31

Linked Data

• dbSNP Id: rs564726033
• gnomAD v3: 2-214932120-A-G
• gnomAD v4: 2-214932120-A-G
• MyVariant Identifiers: chr2:g.215796844A>G (hg19) ; chr2:g.214932120A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214932120A>G , CM000664.2:g.214932120A>G	GRCh38
NC_000002.11:g.215796844A>G , CM000664.1:g.215796844A>G	GRCh37
NC_000002.10:g.215505089A>G	NCBI36
NG_007074.1:g.211308T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.*514T>C (ABCA12) MANE Select	ENSP00000272895.7:n.*514T>C
ENST00000272895.11:c.*514T>C (ABCA12)	ENSP00000272895.7:n.*514T>C
NM_015657.3:c.*514T>C (ABCA12)	NP_056472.2:n.*514T>C
NM_173076.2:c.*514T>C (ABCA12)	NP_775099.2:n.*514T>C
NR_103740.1:n.8602T>C (ABCA12)
NR_110292.1:n.322-15705A>G (SNHG31)
XM_011510951.1:c.*514T>C (ABCA12)	XP_011509253.1:n.*514T>C
XM_011510951.2:c.*514T>C (ABCA12)	XP_011509253.1:n.*514T>C
NM_173076.3:c.*514T>C (ABCA12) MANE Select	NP_775099.2:n.*514T>C
NR_103740.2:n.8800T>C (ABCA12)
NM_015657.4:c.*514T>C (ABCA12)	NP_056472.2:n.*514T>C