Canonical Allele Identifier: CA350446056

Gene: ABCA12 SNHG31

Linked Data

• dbSNP Id: rs759737171
• gnomAD v3: 2-214953900-A-G
• gnomAD v4: 2-214953900-A-G
• MyVariant Identifiers: chr2:g.215818624A>G (hg19) ; chr2:g.214953900A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214953900A>G , CM000664.2:g.214953900A>G	GRCh38
NC_000002.11:g.215818624A>G , CM000664.1:g.215818624A>G	GRCh37
NC_000002.10:g.215526869A>G	NCBI36
NG_007074.1:g.189528T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000272895.12:c.6601T>C (ABCA12) MANE Select	ENSP00000272895.7:p.Phe2201Leu
ENST00000272895.11:c.6601T>C (ABCA12)	ENSP00000272895.7:p.Phe2201Leu
ENST00000389661.4:c.5647T>C (ABCA12)	ENSP00000374312.4:p.Phe1883Leu
NM_015657.3:c.5647T>C (ABCA12)	NP_056472.2:p.Phe1883Leu
NM_173076.2:c.6601T>C (ABCA12)	NP_775099.2:p.Phe2201Leu
NR_103740.1:n.6901T>C (ABCA12)
NR_110292.1:n.444+5953A>G (SNHG31)
XM_011510951.1:c.6610T>C (ABCA12)	XP_011509253.1:p.Phe2204Leu
XM_011510951.2:c.6610T>C (ABCA12)	XP_011509253.1:p.Phe2204Leu
NM_173076.3:c.6601T>C (ABCA12) MANE Select	NP_775099.2:p.Phe2201Leu
NR_103740.2:n.7099T>C (ABCA12)
NM_015657.4:c.5647T>C (ABCA12)	NP_056472.2:p.Phe1883Leu