Canonical Allele Identifier: CA505385707
Gene: SLC44A2 HGNC NCBI

Linked Data

dbSNP Id: rs2066988901
MyVariant Identifiers: chr19:g.10741754T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10631078T>C , CM000681.2:g.10631078T>C GRCh38
NC_000019.9:g.10741754T>C , CM000681.1:g.10741754T>C GRCh37
NC_000019.8:g.10602754T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000335757.10:c.267T>C MANE Select ENSP00000336888.4:p.Tyr89=
ENST00000335757.9:c.267T>C ENSP00000336888.4:p.Tyr89=
ENST00000407327.8:c.261T>C ENSP00000385135.3:p.Tyr87=
ENST00000586078.5:c.267T>C ENSP00000466664.1:p.Tyr89=
ENST00000588409.1:c.245+3074T>C ENSP00000468070.1:n.245+3074T>C
ENST00000588465.5:n.176T>C
ENST00000588688.5:c.108T>C ENSP00000467552.1:p.Tyr36=
ENST00000590382.5:c.102T>C ENSP00000468691.1:p.Tyr34=
ENST00000590857.5:c.-283T>C ENSP00000465547.1:n.-283T>C
ENST00000592293.5:c.*64T>C ENSP00000466612.1:n.*64T>C
NM_001145056.1:c.261T>C NP_001138528.1:p.Tyr87=
NM_020428.3:c.267T>C NP_065161.3:p.Tyr89=
XM_005259997.1:c.267T>C XP_005260054.1:p.Tyr89=
XM_005259999.1:c.261T>C XP_005260056.1:p.Tyr87=
NM_001363611.1:c.267T>C NP_001350540.1:p.Tyr89=
XM_005259999.2:c.261T>C XP_005260056.1:p.Tyr87=
NM_020428.4:c.267T>C MANE Select NP_065161.3:p.Tyr89=
NM_001145056.2:c.261T>C NP_001138528.1:p.Tyr87=
NM_001363611.2:c.267T>C NP_001350540.1:p.Tyr89=