Canonical Allele Identifier: CA350458840

Gene: ABCA12

Linked Data

• ClinVar Variation Id: 2347863
• ClinVar RCV Id: RCV002963943
• MyVariant Identifiers: chr2:g.215928934C>A (hg19) ; chr2:g.215064211C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215064211C>A , CM000664.2:g.215064211C>A	GRCh38
NC_000002.11:g.215928934C>A , CM000664.1:g.215928934C>A	GRCh37
NC_000002.10:g.215637179C>A	NCBI36
NG_007074.1:g.79218G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000272895.12:c.172G>T MANE Select	ENSP00000272895.7:p.Ala58Ser
ENST00000272895.11:c.172G>T	ENSP00000272895.7:p.Ala58Ser
NM_173076.2:c.172G>T	NP_775099.2:p.Ala58Ser
NR_103740.1:n.392G>T
XM_011510951.1:c.172G>T	XP_011509253.1:p.Ala58Ser
XM_011510952.1:c.172G>T	XP_011509254.1:p.Ala58Ser
XM_011510951.2:c.172G>T	XP_011509253.1:p.Ala58Ser
NM_173076.3:c.172G>T MANE Select	NP_775099.2:p.Ala58Ser
NR_103740.2:n.590G>T