Canonical Allele Identifier: CA2624771875

Gene: SOS2

Linked Data

• gnomAD v4: 14-50180469-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50180469T>C , CM000676.2:g.50180469T>C	GRCh38
NC_000014.8:g.50647187T>C , CM000676.1:g.50647187T>C	GRCh37
NC_000014.7:g.49716937T>C	NCBI36
NG_051073.1:g.56225A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000216373.10:c.969+103A>G MANE Select	ENSP00000216373.5:n.969+103A>G
ENST00000216373.9:c.969+103A>G	ENSP00000216373.5:n.969+103A>G
ENST00000543680.5:c.969+103A>G	ENSP00000445328.1:n.969+103A>G
ENST00000555794.2:c.83+103A>G
NM_006939.2:c.969+103A>G	NP_008870.2:n.969+103A>G
XM_005268021.1:c.789+103A>G	XP_005268078.1:n.789+103A>G
XM_011537103.1:c.930+103A>G	XP_011535405.1:n.930+103A>G
XM_011537104.1:c.969+103A>G	XP_011535406.1:n.969+103A>G
XR_943842.1:n.954-3318T>C
XR_943843.1:n.954-3318T>C
NM_006939.3:c.969+103A>G	NP_008870.2:n.969+103A>G
NM_006939.4:c.969+103A>G MANE Select	NP_008870.2:n.969+103A>G