Canonical Allele Identifier: CA9198308
Gene: SLC44A2 HGNC NCBI

Linked Data

dbSNP Id: rs140808248

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10631281G>C , CM000681.2:g.10631281G>C GRCh38
NC_000019.9:g.10741957G>C , CM000681.1:g.10741957G>C GRCh37
NC_000019.8:g.10602957G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000335757.10:c.337G>C MANE Select ENSP00000336888.4:p.Val113Leu
ENST00000335757.9:c.337G>C ENSP00000336888.4:p.Val113Leu
ENST00000407327.8:c.331G>C ENSP00000385135.3:p.Val111Leu
ENST00000586078.5:c.337G>C ENSP00000466664.1:p.Val113Leu
ENST00000588409.1:c.245+3277G>C ENSP00000468070.1:n.245+3277G>C
ENST00000588465.5:n.246G>C
ENST00000588688.5:c.178G>C ENSP00000467552.1:p.Val60Leu
ENST00000590382.5:c.172G>C ENSP00000468691.1:p.Val58Leu
ENST00000590857.5:c.-213G>C ENSP00000465547.1:n.-213G>C
ENST00000592293.5:c.*134G>C ENSP00000466612.1:n.*134G>C
NM_001145056.1:c.331G>C NP_001138528.1:p.Val111Leu
NM_020428.3:c.337G>C NP_065161.3:p.Val113Leu
XM_005259997.1:c.337G>C XP_005260054.1:p.Val113Leu
XM_005259999.1:c.331G>C XP_005260056.1:p.Val111Leu
NM_001363611.1:c.337G>C NP_001350540.1:p.Val113Leu
XM_005259999.2:c.331G>C XP_005260056.1:p.Val111Leu
NM_020428.4:c.337G>C MANE Select NP_065161.3:p.Val113Leu
NM_001145056.2:c.331G>C NP_001138528.1:p.Val111Leu
NM_001363611.2:c.337G>C NP_001350540.1:p.Val113Leu