Canonical Allele Identifier: CA9198306
Gene: SLC44A2 HGNC NCBI

Linked Data

dbSNP Id: rs570912877

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10631277C>G , CM000681.2:g.10631277C>G GRCh38
NC_000019.9:g.10741953C>G , CM000681.1:g.10741953C>G GRCh37
NC_000019.8:g.10602953C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000335757.10:c.333C>G MANE Select ENSP00000336888.4:p.Ile111Met
ENST00000335757.9:c.333C>G ENSP00000336888.4:p.Ile111Met
ENST00000407327.8:c.327C>G ENSP00000385135.3:p.Ile109Met
ENST00000586078.5:c.333C>G ENSP00000466664.1:p.Ile111Met
ENST00000588409.1:c.245+3273C>G ENSP00000468070.1:n.245+3273C>G
ENST00000588465.5:n.242C>G
ENST00000588688.5:c.174C>G ENSP00000467552.1:p.Ile58Met
ENST00000590382.5:c.168C>G ENSP00000468691.1:p.Ile56Met
ENST00000590857.5:c.-217C>G ENSP00000465547.1:n.-217C>G
ENST00000592293.5:c.*130C>G ENSP00000466612.1:n.*130C>G
NM_001145056.1:c.327C>G NP_001138528.1:p.Ile109Met
NM_020428.3:c.333C>G NP_065161.3:p.Ile111Met
XM_005259997.1:c.333C>G XP_005260054.1:p.Ile111Met
XM_005259999.1:c.327C>G XP_005260056.1:p.Ile109Met
NM_001363611.1:c.333C>G NP_001350540.1:p.Ile111Met
XM_005259999.2:c.327C>G XP_005260056.1:p.Ile109Met
NM_020428.4:c.333C>G MANE Select NP_065161.3:p.Ile111Met
NM_001145056.2:c.327C>G NP_001138528.1:p.Ile109Met
NM_001363611.2:c.333C>G NP_001350540.1:p.Ile111Met