Canonical Allele Identifier: CA350469500

Gene: ABCA12

Linked Data

• dbSNP Id: rs1206278449
• gnomAD v2: 2-215855685-A-G
• MyVariant Identifiers: chr2:g.215855685A>G (hg19) ; chr2:g.214990961A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214990961A>G , CM000664.2:g.214990961A>G	GRCh38
NC_000002.11:g.215855685A>G , CM000664.1:g.215855685A>G	GRCh37
NC_000002.10:g.215563930A>G	NCBI36
NG_007074.1:g.152467T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.3365T>C MANE Select	ENSP00000272895.7:p.Leu1122Ser
ENST00000272895.11:c.3365T>C	ENSP00000272895.7:p.Leu1122Ser
ENST00000389661.4:c.2411T>C	ENSP00000374312.4:p.Leu804Ser
NM_015657.3:c.2411T>C	NP_056472.2:p.Leu804Ser
NM_173076.2:c.3365T>C	NP_775099.2:p.Leu1122Ser
NR_103740.1:n.3665T>C
XM_011510951.1:c.3365T>C	XP_011509253.1:p.Leu1122Ser
XM_011510952.1:c.3365T>C	XP_011509254.1:p.Leu1122Ser
XM_011510951.2:c.3365T>C	XP_011509253.1:p.Leu1122Ser
NM_173076.3:c.3365T>C MANE Select	NP_775099.2:p.Leu1122Ser
NR_103740.2:n.3863T>C
NM_015657.4:c.2411T>C	NP_056472.2:p.Leu804Ser