Canonical Allele Identifier: CA350483410

Gene: ABCA12

Linked Data

• MyVariant Identifiers: chr2:g.215876177A>T (hg19) ; chr2:g.215011453A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215011453A>T , CM000664.2:g.215011453A>T	GRCh38
NC_000002.11:g.215876177A>T , CM000664.1:g.215876177A>T	GRCh37
NC_000002.10:g.215584422A>T	NCBI36
NG_007074.1:g.131975T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.2318T>A MANE Select	ENSP00000272895.7:p.Ile773Asn
ENST00000272895.11:c.2318T>A	ENSP00000272895.7:p.Ile773Asn
ENST00000389661.4:c.1364T>A	ENSP00000374312.4:p.Ile455Asn
NM_015657.3:c.1364T>A	NP_056472.2:p.Ile455Asn
NM_173076.2:c.2318T>A	NP_775099.2:p.Ile773Asn
NR_103740.1:n.2562T>A
XM_011510951.1:c.2318T>A	XP_011509253.1:p.Ile773Asn
XM_011510952.1:c.2318T>A	XP_011509254.1:p.Ile773Asn
XM_011510951.2:c.2318T>A	XP_011509253.1:p.Ile773Asn
NM_173076.3:c.2318T>A MANE Select	NP_775099.2:p.Ile773Asn
NR_103740.2:n.2760T>A
NM_015657.4:c.1364T>A	NP_056472.2:p.Ile455Asn