Canonical Allele Identifier: CA2582408712
Gene: SLC44A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10631198_10631199insA , CM000681.2:g.10631198_10631199insA GRCh38
NC_000019.9:g.10741874_10741875insA , CM000681.1:g.10741874_10741875insA GRCh37
NC_000019.8:g.10602874_10602875insA NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000335757.10:c.330+57_330+58insA MANE Select ENSP00000336888.4:n.330+57_330+58insA
ENST00000335757.9:c.330+57_330+58insA ENSP00000336888.4:n.330+57_330+58insA
ENST00000407327.8:c.324+57_324+58insA ENSP00000385135.3:n.324+57_324+58insA
ENST00000586078.5:c.330+57_330+58insA ENSP00000466664.1:n.330+57_330+58insA
ENST00000588409.1:c.245+3194_245+3195insA ENSP00000468070.1:n.245+3194_245+3195insA
ENST00000588465.5:n.239+57_239+58insA
ENST00000588688.5:c.171+57_171+58insA ENSP00000467552.1:n.171+57_171+58insA
ENST00000590382.5:c.165+57_165+58insA ENSP00000468691.1:n.165+57_165+58insA
ENST00000590857.5:c.-220+57_-220+58insA ENSP00000465547.1:n.-220+57_-220+58insA
ENST00000592293.5:c.*127+57_*127+58insA ENSP00000466612.1:n.*127+57_*127+58insA
NM_001145056.1:c.324+57_324+58insA NP_001138528.1:n.324+57_324+58insA
NM_020428.3:c.330+57_330+58insA NP_065161.3:n.330+57_330+58insA
XM_005259997.1:c.330+57_330+58insA XP_005260054.1:n.330+57_330+58insA
XM_005259999.1:c.324+57_324+58insA XP_005260056.1:n.324+57_324+58insA
NM_001363611.1:c.330+57_330+58insA NP_001350540.1:n.330+57_330+58insA
XM_005259999.2:c.324+57_324+58insA XP_005260056.1:n.324+57_324+58insA
NM_020428.4:c.330+57_330+58insA MANE Select NP_065161.3:n.330+57_330+58insA
NM_001145056.2:c.324+57_324+58insA NP_001138528.1:n.324+57_324+58insA
NM_001363611.2:c.330+57_330+58insA NP_001350540.1:n.330+57_330+58insA