Canonical Allele Identifier: CA389646958
Gene: SOS2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50180602C>A , CM000676.2:g.50180602C>A GRCh38
NC_000014.8:g.50647320C>A , CM000676.1:g.50647320C>A GRCh37
NC_000014.7:g.49717070C>A NCBI36
NG_051073.1:g.56092G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000216373.10:c.939G>T MANE Select ENSP00000216373.5:p.Met313Ile
ENST00000216373.9:c.939G>T ENSP00000216373.5:p.Met313Ile
ENST00000543680.5:c.939G>T ENSP00000445328.1:p.Met313Ile
ENST00000555794.2:c.53G>T
NM_006939.2:c.939G>T NP_008870.2:p.Met313Ile
XM_005268021.1:c.759G>T XP_005268078.1:p.Met253Ile
XM_011537103.1:c.900G>T XP_011535405.1:p.Met300Ile
XM_011537104.1:c.939G>T XP_011535406.1:p.Met313Ile
XR_943842.1:n.954-3185C>A
XR_943843.1:n.954-3185C>A
NM_006939.3:c.939G>T NP_008870.2:p.Met313Ile
NM_006939.4:c.939G>T MANE Select NP_008870.2:p.Met313Ile