Canonical Allele Identifier: CA404018829

Gene: SLC44A2

Linked Data

• MyVariant Identifiers: chr19:g.10742017G>A (hg19) ; chr19:g.10631341G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10631341G>A , CM000681.2:g.10631341G>A	GRCh38
NC_000019.9:g.10742017G>A , CM000681.1:g.10742017G>A	GRCh37
NC_000019.8:g.10603017G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335757.10:c.397G>A MANE Select	ENSP00000336888.4:p.Glu133Lys
ENST00000335757.9:c.397G>A	ENSP00000336888.4:p.Glu133Lys
ENST00000407327.8:c.391G>A	ENSP00000385135.3:p.Glu131Lys
ENST00000586078.5:c.397G>A	ENSP00000466664.1:p.Glu133Lys
ENST00000588409.1:c.245+3337G>A	ENSP00000468070.1:n.245+3337G>A
ENST00000588465.5:n.306G>A
ENST00000588688.5:c.238G>A	ENSP00000467552.1:p.Glu80Lys
ENST00000590382.5:c.232G>A	ENSP00000468691.1:p.Glu78Lys
ENST00000590857.5:c.-153G>A	ENSP00000465547.1:n.-153G>A
ENST00000592293.5:c.*194G>A	ENSP00000466612.1:n.*194G>A
NM_001145056.1:c.391G>A	NP_001138528.1:p.Glu131Lys
NM_020428.3:c.397G>A	NP_065161.3:p.Glu133Lys
XM_005259997.1:c.397G>A	XP_005260054.1:p.Glu133Lys
XM_005259999.1:c.391G>A	XP_005260056.1:p.Glu131Lys
NM_001363611.1:c.397G>A	NP_001350540.1:p.Glu133Lys
XM_005259999.2:c.391G>A	XP_005260056.1:p.Glu131Lys
NM_020428.4:c.397G>A MANE Select	NP_065161.3:p.Glu133Lys
NM_001145056.2:c.391G>A	NP_001138528.1:p.Glu131Lys
NM_001363611.2:c.397G>A	NP_001350540.1:p.Glu133Lys