Canonical Allele Identifier: CA346365496
Gene: SOS1 HGNC NCBI

Linked Data

gnomAD v4: 2-39022690-G-C
MyVariant Identifiers: chr2:g.39249831G>C (hg19) chr2:g.39022690G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.39022690G>C , CM000664.2:g.39022690G>C GRCh38
NC_000002.11:g.39249831G>C , CM000664.1:g.39249831G>C GRCh37
NC_000002.10:g.39103335G>C NCBI36
NG_007530.1:g.102774C>G , LRG_754:g.102774C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000472480.2:n.1618C>G
ENST00000685279.1:c.505C>G ENSP00000509424.1:p.Pro169Ala
ENST00000688043.1:n.1959C>G
ENST00000689668.1:n.1745C>G
ENST00000690876.1:c.1627C>G ENSP00000508955.1:p.Pro543Ala
ENST00000691229.1:c.1627C>G ENSP00000510437.1:p.Pro543Ala
ENST00000692089.1:c.1627C>G ENSP00000508626.1:p.Pro543Ala
ENST00000692620.1:c.505C>G ENSP00000509311.1:p.Pro169Ala
ENST00000402219.8:c.1738C>G MANE Select ENSP00000384675.2:p.Pro580Ala
ENST00000395038.6:c.1738C>G ENSP00000378479.2:p.Pro580Ala
ENST00000402219.6:c.1738C>G ENSP00000384675.2:p.Pro580Ala
ENST00000426016.5:c.1738C>G ENSP00000387784.1:p.Pro580Ala
NM_005633.3:c.1738C>G , LRG_754t1:c.1738C>G NP_005624.2:p.Pro580Ala
XM_005264515.3:c.1738C>G XP_005264572.1:p.Pro580Ala
XM_011533060.1:c.1831C>G XP_011531362.1:p.Pro611Ala
XM_011533061.1:c.1831C>G XP_011531363.1:p.Pro611Ala
XM_011533062.1:c.1717C>G XP_011531364.1:p.Pro573Ala
XM_011533063.1:c.1714C>G XP_011531365.1:p.Pro572Ala
XM_011533064.1:c.1567C>G XP_011531366.1:p.Pro523Ala
XM_011533065.1:c.1831C>G XP_011531367.1:p.Pro611Ala
XM_011533066.1:c.673C>G XP_011531368.1:p.Pro225Ala
XM_005264515.4:c.1738C>G XP_005264572.1:p.Pro580Ala
XM_011533062.2:c.1717C>G XP_011531364.1:p.Pro573Ala
XM_011533064.2:c.1567C>G XP_011531366.1:p.Pro523Ala
NM_001382394.1:c.1717C>G NP_001369323.1:p.Pro573Ala
NM_001382395.1:c.1738C>G NP_001369324.1:p.Pro580Ala
NM_005633.4:c.1738C>G MANE Select NP_005624.2:p.Pro580Ala
Search 100 bp 5'
Search 100 bp 3'