Canonical Allele Identifier: CA404018104

Gene: SLC44A2

Linked Data

• MyVariant Identifiers: chr19:g.10741792T>A (hg19) ; chr19:g.10631116T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10631116T>A , CM000681.2:g.10631116T>A	GRCh38
NC_000019.9:g.10741792T>A , CM000681.1:g.10741792T>A	GRCh37
NC_000019.8:g.10602792T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335757.10:c.305T>A MANE Select	ENSP00000336888.4:p.Leu102Gln
ENST00000335757.9:c.305T>A	ENSP00000336888.4:p.Leu102Gln
ENST00000407327.8:c.299T>A	ENSP00000385135.3:p.Leu100Gln
ENST00000586078.5:c.305T>A	ENSP00000466664.1:p.Leu102Gln
ENST00000588409.1:c.245+3112T>A	ENSP00000468070.1:n.245+3112T>A
ENST00000588465.5:n.214T>A
ENST00000588688.5:c.146T>A	ENSP00000467552.1:p.Leu49Gln
ENST00000590382.5:c.140T>A	ENSP00000468691.1:p.Leu47Gln
ENST00000590857.5:c.-245T>A	ENSP00000465547.1:n.-245T>A
ENST00000592293.5:c.*102T>A	ENSP00000466612.1:n.*102T>A
NM_001145056.1:c.299T>A	NP_001138528.1:p.Leu100Gln
NM_020428.3:c.305T>A	NP_065161.3:p.Leu102Gln
XM_005259997.1:c.305T>A	XP_005260054.1:p.Leu102Gln
XM_005259999.1:c.299T>A	XP_005260056.1:p.Leu100Gln
NM_001363611.1:c.305T>A	NP_001350540.1:p.Leu102Gln
XM_005259999.2:c.299T>A	XP_005260056.1:p.Leu100Gln
NM_020428.4:c.305T>A MANE Select	NP_065161.3:p.Leu102Gln
NM_001145056.2:c.299T>A	NP_001138528.1:p.Leu100Gln
NM_001363611.2:c.305T>A	NP_001350540.1:p.Leu102Gln