Canonical Allele Identifier: CA404018010
Gene: SLC44A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10631101G>T , CM000681.2:g.10631101G>T GRCh38
NC_000019.9:g.10741777G>T , CM000681.1:g.10741777G>T GRCh37
NC_000019.8:g.10602777G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000335757.10:c.290G>T MANE Select ENSP00000336888.4:p.Ser97Ile
ENST00000335757.9:c.290G>T ENSP00000336888.4:p.Ser97Ile
ENST00000407327.8:c.284G>T ENSP00000385135.3:p.Ser95Ile
ENST00000586078.5:c.290G>T ENSP00000466664.1:p.Ser97Ile
ENST00000588409.1:c.245+3097G>T ENSP00000468070.1:n.245+3097G>T
ENST00000588465.5:n.199G>T
ENST00000588688.5:c.131G>T ENSP00000467552.1:p.Ser44Ile
ENST00000590382.5:c.125G>T ENSP00000468691.1:p.Ser42Ile
ENST00000590857.5:c.-260G>T ENSP00000465547.1:n.-260G>T
ENST00000592293.5:c.*87G>T ENSP00000466612.1:n.*87G>T
NM_001145056.1:c.284G>T NP_001138528.1:p.Ser95Ile
NM_020428.3:c.290G>T NP_065161.3:p.Ser97Ile
XM_005259997.1:c.290G>T XP_005260054.1:p.Ser97Ile
XM_005259999.1:c.284G>T XP_005260056.1:p.Ser95Ile
NM_001363611.1:c.290G>T NP_001350540.1:p.Ser97Ile
XM_005259999.2:c.284G>T XP_005260056.1:p.Ser95Ile
NM_020428.4:c.290G>T MANE Select NP_065161.3:p.Ser97Ile
NM_001145056.2:c.284G>T NP_001138528.1:p.Ser95Ile
NM_001363611.2:c.290G>T NP_001350540.1:p.Ser97Ile