Canonical Allele Identifier: CA505385817
Gene: SLC44A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.10741808C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10631132C>G , CM000681.2:g.10631132C>G GRCh38
NC_000019.9:g.10741808C>G , CM000681.1:g.10741808C>G GRCh37
NC_000019.8:g.10602808C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000335757.10:c.321C>G MANE Select ENSP00000336888.4:p.Pro107=
ENST00000335757.9:c.321C>G ENSP00000336888.4:p.Pro107=
ENST00000407327.8:c.315C>G ENSP00000385135.3:p.Pro105=
ENST00000586078.5:c.321C>G ENSP00000466664.1:p.Pro107=
ENST00000588409.1:c.245+3128C>G ENSP00000468070.1:n.245+3128C>G
ENST00000588465.5:n.230C>G
ENST00000588688.5:c.162C>G ENSP00000467552.1:p.Pro54=
ENST00000590382.5:c.156C>G ENSP00000468691.1:p.Pro52=
ENST00000590857.5:c.-229C>G ENSP00000465547.1:n.-229C>G
ENST00000592293.5:c.*118C>G ENSP00000466612.1:n.*118C>G
NM_001145056.1:c.315C>G NP_001138528.1:p.Pro105=
NM_020428.3:c.321C>G NP_065161.3:p.Pro107=
XM_005259997.1:c.321C>G XP_005260054.1:p.Pro107=
XM_005259999.1:c.315C>G XP_005260056.1:p.Pro105=
NM_001363611.1:c.321C>G NP_001350540.1:p.Pro107=
XM_005259999.2:c.315C>G XP_005260056.1:p.Pro105=
NM_020428.4:c.321C>G MANE Select NP_065161.3:p.Pro107=
NM_001145056.2:c.315C>G NP_001138528.1:p.Pro105=
NM_001363611.2:c.321C>G NP_001350540.1:p.Pro107=