Canonical Allele Identifier: CA389645576
Community Standard Title: NM_006939.4(SOS2):c.1523A>G (p.His508Arg)
Gene: SOS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50159760T>C , CM000676.2:g.50159760T>C GRCh38
NC_000014.8:g.50626478T>C , CM000676.1:g.50626478T>C GRCh37
NC_000014.7:g.49696228T>C NCBI36
NG_051073.1:g.76934A>G

Transcript Alleles

HGVS Amino-acid Change
NM_006939.4:c.1523A>G MANE Select NP_008870.2:p.His508Arg
ENST00000216373.10:c.1523A>G MANE Select ENSP00000216373.5:p.His508Arg
NM_006939.2:c.1523A>G NP_008870.2:p.His508Arg
NM_006939.3:c.1523A>G NP_008870.2:p.His508Arg
ENST00000216373.9:c.1523A>G ENSP00000216373.5:p.His508Arg
ENST00000543680.5:c.1424A>G ENSP00000445328.1:p.His475Arg
ENST00000555794.2:c.637A>G
XM_005268021.1:c.1343A>G XP_005268078.1:p.His448Arg
XM_011537103.1:c.1484A>G XP_011535405.1:p.His495Arg
XM_011537104.1:c.1523A>G XP_011535406.1:p.His508Arg