Canonical Allele Identifier: CA65501385

Gene: ABCA12 SNHG31

Linked Data

• dbSNP Id: rs916901092
• gnomAD v3: 2-214932306-C-G
• gnomAD v4: 2-214932306-C-G
• MyVariant Identifiers: chr2:g.215797030C>G (hg19) ; chr2:g.214932306C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214932306C>G , CM000664.2:g.214932306C>G	GRCh38
NC_000002.11:g.215797030C>G , CM000664.1:g.215797030C>G	GRCh37
NC_000002.10:g.215505275C>G	NCBI36
NG_007074.1:g.211122G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.*328G>C (ABCA12) MANE Select	ENSP00000272895.7:n.*328G>C
ENST00000272895.11:c.*328G>C (ABCA12)	ENSP00000272895.7:n.*328G>C
NM_015657.3:c.*328G>C (ABCA12)	NP_056472.2:n.*328G>C
NM_173076.2:c.*328G>C (ABCA12)	NP_775099.2:n.*328G>C
NR_103740.1:n.8416G>C (ABCA12)
NR_110292.1:n.322-15519C>G (SNHG31)
XM_011510951.1:c.*328G>C (ABCA12)	XP_011509253.1:n.*328G>C
XM_011510951.2:c.*328G>C (ABCA12)	XP_011509253.1:n.*328G>C
NM_173076.3:c.*328G>C (ABCA12) MANE Select	NP_775099.2:n.*328G>C
NR_103740.2:n.8614G>C (ABCA12)
NM_015657.4:c.*328G>C (ABCA12)	NP_056472.2:n.*328G>C