Canonical Allele Identifier: CA2090885

Gene: ABCA12 SNHG31

Linked Data

• dbSNP Id: rs778557858
• ExAC: 2:215818704 A / G
• gnomAD v2: 2-215818704-A-G
• gnomAD v4: 2-214953980-A-G
• MyVariant Identifiers: chr2:g.215818704A>G (hg19) ; chr2:g.214953980A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214953980A>G , CM000664.2:g.214953980A>G	GRCh38
NC_000002.11:g.215818704A>G , CM000664.1:g.215818704A>G	GRCh37
NC_000002.10:g.215526949A>G	NCBI36
NG_007074.1:g.189448T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.6521T>C (ABCA12) MANE Select	ENSP00000272895.7:p.Val2174Ala
ENST00000272895.11:c.6521T>C (ABCA12)	ENSP00000272895.7:p.Val2174Ala
ENST00000389661.4:c.5567T>C (ABCA12)	ENSP00000374312.4:p.Val1856Ala
NM_015657.3:c.5567T>C (ABCA12)	NP_056472.2:p.Val1856Ala
NM_173076.2:c.6521T>C (ABCA12)	NP_775099.2:p.Val2174Ala
NR_103740.1:n.6821T>C (ABCA12)
NR_110292.1:n.444+6033A>G (SNHG31)
XM_011510951.1:c.6530T>C (ABCA12)	XP_011509253.1:p.Val2177Ala
XM_011510951.2:c.6530T>C (ABCA12)	XP_011509253.1:p.Val2177Ala
NM_173076.3:c.6521T>C (ABCA12) MANE Select	NP_775099.2:p.Val2174Ala
NR_103740.2:n.7019T>C (ABCA12)
NM_015657.4:c.5567T>C (ABCA12)	NP_056472.2:p.Val1856Ala