Canonical Allele Identifier: CA350469605

Gene: ABCA12

Linked Data

• MyVariant Identifiers: chr2:g.215855704T>A (hg19) ; chr2:g.214990980T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214990980T>A , CM000664.2:g.214990980T>A	GRCh38
NC_000002.11:g.215855704T>A , CM000664.1:g.215855704T>A	GRCh37
NC_000002.10:g.215563949T>A	NCBI36
NG_007074.1:g.152448A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.3346A>T MANE Select	ENSP00000272895.7:p.Ile1116Leu
ENST00000272895.11:c.3346A>T	ENSP00000272895.7:p.Ile1116Leu
ENST00000389661.4:c.2392A>T	ENSP00000374312.4:p.Ile798Leu
NM_015657.3:c.2392A>T	NP_056472.2:p.Ile798Leu
NM_173076.2:c.3346A>T	NP_775099.2:p.Ile1116Leu
NR_103740.1:n.3646A>T
XM_011510951.1:c.3346A>T	XP_011509253.1:p.Ile1116Leu
XM_011510952.1:c.3346A>T	XP_011509254.1:p.Ile1116Leu
XM_011510951.2:c.3346A>T	XP_011509253.1:p.Ile1116Leu
NM_173076.3:c.3346A>T MANE Select	NP_775099.2:p.Ile1116Leu
NR_103740.2:n.3844A>T
NM_015657.4:c.2392A>T	NP_056472.2:p.Ile798Leu