Canonical Allele Identifier: CA385337596

Gene: SMARCC2

Linked Data

• gnomAD v4: 12-56163759-C-T
• MyVariant Identifiers: chr12:g.56557543C>T (hg19) ; chr12:g.56163759C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.56163759C>T , CM000674.2:g.56163759C>T	GRCh38
NC_000012.11:g.56557543C>T , CM000674.1:g.56557543C>T	GRCh37
NC_000012.10:g.54843810C>T	NCBI36
NG_047081.1:g.30809G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000550164.6:c.3668G>A MANE Select	ENSP00000449396.1:p.Gly1223Asp
ENST00000267064.8:c.3575G>A	ENSP00000267064.4:p.Gly1192Asp
ENST00000347471.8:c.3323G>A	ENSP00000302919.4:p.Gly1108Asp
ENST00000394023.7:c.3389G>A	ENSP00000377591.3:p.Gly1130Asp
ENST00000550164.5:c.3668G>A	ENSP00000449396.1:p.Gly1223Asp
ENST00000552674.5:c.*2986G>A	ENSP00000447680.1:n.*2986G>A
NM_001130420.1:c.3389G>A	NP_001123892.1:p.Gly1130Asp
NM_003075.3:c.3575G>A	NP_003066.2:p.Gly1192Asp
NM_139067.2:c.3323G>A	NP_620706.1:p.Gly1108Asp
XM_005269101.1:c.3668G>A	XP_005269158.1:p.Gly1223Asp
XM_005269102.1:c.3665G>A	XP_005269159.1:p.Gly1222Asp
XM_005269103.1:c.3572G>A	XP_005269160.1:p.Gly1191Asp
XM_005269104.1:c.3386G>A	XP_005269161.1:p.Gly1129Asp
XM_011538693.1:c.2915G>A	XP_011536995.1:p.Gly972Asp
NM_001130420.2:c.3389G>A	NP_001123892.1:p.Gly1130Asp
NM_001330288.1:c.3668G>A	NP_001317217.1:p.Gly1223Asp
NM_003075.4:c.3575G>A	NP_003066.2:p.Gly1192Asp
NM_139067.3:c.3323G>A	NP_620706.1:p.Gly1108Asp
XM_005269102.2:c.3665G>A	XP_005269159.1:p.Gly1222Asp
XM_005269103.2:c.3572G>A	XP_005269160.1:p.Gly1191Asp
XM_011538693.3:c.2915G>A	XP_011536995.1:p.Gly972Asp
XM_017019884.1:c.3320G>A	XP_016875373.1:p.Gly1107Asp
XM_017019885.1:c.3296G>A	XP_016875374.1:p.Gly1099Asp
XM_017019886.1:c.3230G>A	XP_016875375.1:p.Gly1077Asp
XM_017019887.2:c.2822G>A	XP_016875376.1:p.Gly941Asp
XR_002957373.1:n.3452G>A
XR_002957374.1:n.3173G>A
NM_001330288.2:c.3668G>A MANE Select	NP_001317217.1:p.Gly1223Asp
NM_001130420.3:c.3389G>A	NP_001123892.1:p.Gly1130Asp
NM_003075.5:c.3575G>A	NP_003066.2:p.Gly1192Asp
NM_139067.4:c.3323G>A	NP_620706.1:p.Gly1108Asp