Canonical Allele Identifier: CA64803740

Gene: ABCA12

Linked Data

• ClinVar Variation Id: 2540284
• ClinVar RCV Id: RCV003271676
• dbSNP Id: rs778035381
• gnomAD v2: 2-215884361-T-G
• gnomAD v4: 2-215019637-T-G
• MyVariant Identifiers: chr2:g.215884361T>G (hg19) ; chr2:g.215019637T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215019637T>G , CM000664.2:g.215019637T>G	GRCh38
NC_000002.11:g.215884361T>G , CM000664.1:g.215884361T>G	GRCh37
NC_000002.10:g.215592606T>G	NCBI36
NG_007074.1:g.123791A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.1447A>C MANE Select	ENSP00000272895.7:p.Ile483Leu
ENST00000272895.11:c.1447A>C	ENSP00000272895.7:p.Ile483Leu
ENST00000389661.4:c.493A>C	ENSP00000374312.4:p.Ile165Leu
NM_015657.3:c.493A>C	NP_056472.2:p.Ile165Leu
NM_173076.2:c.1447A>C	NP_775099.2:p.Ile483Leu
NR_103740.1:n.1691A>C
XM_011510951.1:c.1447A>C	XP_011509253.1:p.Ile483Leu
XM_011510952.1:c.1447A>C	XP_011509254.1:p.Ile483Leu
XM_011510951.2:c.1447A>C	XP_011509253.1:p.Ile483Leu
NM_173076.3:c.1447A>C MANE Select	NP_775099.2:p.Ile483Leu
NR_103740.2:n.1889A>C
NM_015657.4:c.493A>C	NP_056472.2:p.Ile165Leu