Canonical Allele Identifier: CA2322525654

Gene: SLC44A2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10631291G= , CM000681.2:g.10631291G=	GRCh38
NC_000019.9:g.10741967G= , CM000681.1:g.10741967G=	GRCh37
NC_000019.8:g.10602967G=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335757.10:c.347G= MANE Select	ENSP00000336888.4:p.Cys116=
ENST00000335757.9:c.347G=	ENSP00000336888.4:p.Cys116=
ENST00000407327.8:c.341G=	ENSP00000385135.3:p.Cys114=
ENST00000586078.5:c.347G=	ENSP00000466664.1:p.Cys116=
ENST00000588409.1:c.245+3287G=	ENSP00000468070.1:n.245+3287G=
ENST00000588465.5:n.256G=
ENST00000588688.5:c.188G=	ENSP00000467552.1:p.Cys63=
ENST00000590382.5:c.182G=	ENSP00000468691.1:p.Cys61=
ENST00000590857.5:c.-203G=	ENSP00000465547.1:n.-203G=
ENST00000592293.5:c.*144G=	ENSP00000466612.1:n.*144G=
NM_001145056.1:c.341G=	NP_001138528.1:p.Cys114=
NM_020428.3:c.347G=	NP_065161.3:p.Cys116=
XM_005259997.1:c.347G=	XP_005260054.1:p.Cys116=
XM_005259999.1:c.341G=	XP_005260056.1:p.Cys114=
NM_001363611.1:c.347G=	NP_001350540.1:p.Cys116=
XM_005259999.2:c.341G=	XP_005260056.1:p.Cys114=
NM_020428.4:c.347G= MANE Select	NP_065161.3:p.Cys116=
NM_001145056.2:c.341G=	NP_001138528.1:p.Cys114=
NM_001363611.2:c.347G=	NP_001350540.1:p.Cys116=