Canonical Allele Identifier: CA2575520263
Gene: SOS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50130503_50130504dup , CM000676.2:g.50130503_50130504dup GRCh38
NC_000014.8:g.50597221_50597222dup , CM000676.1:g.50597221_50597222dup GRCh37
NC_000014.7:g.49666971_49666972dup NCBI36
NG_051073.1:g.106192_106193dup

Transcript Alleles

HGVS Amino-acid change
ENST00000216373.10:c.3336_3337dup MANE Select ENSP00000216373.5:p.Gly1113ValfsTer28
ENST00000216373.9:c.3336_3337dup ENSP00000216373.5:p.Gly1113ValfsTer28
ENST00000543680.5:c.3237_3238dup ENSP00000445328.1:p.Gly1080ValfsTer28
NM_006939.2:c.3336_3337dup NP_008870.2:p.Gly1113ValfsTer28
XM_005268021.1:c.3156_3157dup XP_005268078.1:p.Gly1053ValfsTer28
XM_011537103.1:c.3297_3298dup XP_011535405.1:p.Gly1100ValfsTer28
NM_006939.3:c.3336_3337dup NP_008870.2:p.Gly1113ValfsTer28
NM_006939.4:c.3336_3337dup MANE Select NP_008870.2:p.Gly1113ValfsTer28