Canonical Allele Identifier: CA607817230

Gene: KSR2

Linked Data

• dbSNP Id: rs1356288853
• gnomAD v2: 12-118353924-GTT-G
• gnomAD v3: 12-117916119-GTT-G
• gnomAD v4: 12-117916119-GTT-G
• MyVariant Identifiers: chr12:g.118353925_118353926del (hg19) ; chr12:g.117916120_117916121del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.117916123_117916124del , CM000674.2:g.117916123_117916124del	GRCh38
NC_000012.11:g.118353928_118353929del , CM000674.1:g.118353928_118353929del	GRCh37
NC_000012.10:g.116838311_116838312del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339824.7:c.180+51955_180+51956del MANE Select	ENSP00000339952.4:n.180+51955_180+51956del
ENST00000339824.6:c.180+51955_180+51956del	ENSP00000339952.4:n.180+51955_180+51956del
ENST00000425217.5:c.93+51955_93+51956del	ENSP00000389715.1:n.93+51955_93+51956del
NM_173598.4:c.93+51955_93+51956del	NP_775869.3:n.93+51955_93+51956del
XM_011538224.1:c.180+51955_180+51956del	XP_011536526.1:n.180+51955_180+51956del
XM_011538226.1:c.180+51955_180+51956del	XP_011536528.1:n.180+51955_180+51956del
XM_011538229.1:c.180+51955_180+51956del	XP_011536531.1:n.180+51955_180+51956del
XR_944522.1:n.1014+51955_1014+51956del
XM_011538224.3:c.180+51955_180+51956del	XP_011536526.1:n.180+51955_180+51956del
XM_011538226.3:c.180+51955_180+51956del	XP_011536528.1:n.180+51955_180+51956del
XM_011538229.3:c.180+51955_180+51956del	XP_011536531.1:n.180+51955_180+51956del
XM_017019208.2:c.180+51955_180+51956del	XP_016874697.1:n.180+51955_180+51956del
XM_017019209.2:c.180+51955_180+51956del	XP_016874698.1:n.180+51955_180+51956del
NM_173598.6:c.180+51955_180+51956del MANE Select	NP_775869.4:n.180+51955_180+51956del