Canonical Allele Identifier: CA385343935

Gene: SMARCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.56171342T>C , CM000674.2:g.56171342T>C	GRCh38
NC_000012.11:g.56565126T>C , CM000674.1:g.56565126T>C	GRCh37
NC_000012.10:g.54851393T>C	NCBI36
NG_047081.1:g.23226A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001330288.2:c.2276A>G MANE Select	NP_001317217.1:p.Lys759Arg
ENST00000550164.6:c.2276A>G MANE Select	ENSP00000449396.1:p.Lys759Arg
NM_001130420.1:c.2276A>G	NP_001123892.1:p.Lys759Arg
NM_001130420.2:c.2276A>G	NP_001123892.1:p.Lys759Arg
NM_001130420.3:c.2276A>G	NP_001123892.1:p.Lys759Arg
NM_001330288.1:c.2276A>G	NP_001317217.1:p.Lys759Arg
NM_003075.3:c.2183A>G	NP_003066.2:p.Lys728Arg
NM_003075.4:c.2183A>G	NP_003066.2:p.Lys728Arg
NM_003075.5:c.2183A>G	NP_003066.2:p.Lys728Arg
NM_139067.2:c.2276A>G	NP_620706.1:p.Lys759Arg
NM_139067.3:c.2276A>G	NP_620706.1:p.Lys759Arg
NM_139067.4:c.2276A>G	NP_620706.1:p.Lys759Arg
ENST00000267064.8:c.2183A>G	ENSP00000267064.4:p.Lys728Arg
ENST00000347471.8:c.2276A>G	ENSP00000302919.4:p.Lys759Arg
ENST00000394023.7:c.2276A>G	ENSP00000377591.3:p.Lys759Arg
ENST00000550164.5:c.2276A>G	ENSP00000449396.1:p.Lys759Arg
ENST00000552674.5:c.*1939A>G	ENSP00000447680.1:n.*1939A>G
XM_005269101.1:c.2276A>G	XP_005269158.1:p.Lys759Arg
XM_005269102.1:c.2273A>G	XP_005269159.1:p.Lys758Arg
XM_005269102.2:c.2273A>G	XP_005269159.1:p.Lys758Arg
XM_005269103.1:c.2180A>G	XP_005269160.1:p.Lys727Arg
XM_005269103.2:c.2180A>G	XP_005269160.1:p.Lys727Arg
XM_005269104.1:c.2273A>G	XP_005269161.1:p.Lys758Arg
XM_011538693.1:c.1523A>G	XP_011536995.1:p.Lys508Arg
XM_011538693.3:c.1523A>G	XP_011536995.1:p.Lys508Arg
XM_011538694.1:c.*73A>G	XP_011536996.1:n.*73A>G
XM_017019884.1:c.2273A>G	XP_016875373.1:p.Lys758Arg
XM_017019885.1:c.2183A>G	XP_016875374.1:p.Lys728Arg
XM_017019886.1:c.2183A>G	XP_016875375.1:p.Lys728Arg
XM_017019887.2:c.1430A>G	XP_016875376.1:p.Lys477Arg
XR_002957373.1:n.2060A>G
XR_002957374.1:n.2060A>G