Canonical Allele Identifier: CA349860

Gene: SMARCC2

Linked Data

• ClinVar Variation Id: 219351
• ClinVar RCV Id: RCV000205753
• dbSNP Id: rs864622039
• MyVariant Identifiers: chr12:g.56557541T>G (hg19) ; chr12:g.56163757T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.56163757T>G , CM000674.2:g.56163757T>G	GRCh38
NC_000012.11:g.56557541T>G , CM000674.1:g.56557541T>G	GRCh37
NC_000012.10:g.54843808T>G	NCBI36
NG_047081.1:g.30811A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000550164.6:c.3670A>C MANE Select	ENSP00000449396.1:p.Thr1224Pro
ENST00000267064.8:c.3577A>C	ENSP00000267064.4:p.Thr1193Pro
ENST00000347471.8:c.3325A>C	ENSP00000302919.4:p.Thr1109Pro
ENST00000394023.7:c.3391A>C	ENSP00000377591.3:p.Thr1131Pro
ENST00000550164.5:c.3670A>C	ENSP00000449396.1:p.Thr1224Pro
ENST00000552674.5:c.*2988A>C	ENSP00000447680.1:n.*2988A>C
NM_001130420.1:c.3391A>C	NP_001123892.1:p.Thr1131Pro
NM_003075.3:c.3577A>C	NP_003066.2:p.Thr1193Pro
NM_139067.2:c.3325A>C	NP_620706.1:p.Thr1109Pro
XM_005269101.1:c.3670A>C	XP_005269158.1:p.Thr1224Pro
XM_005269102.1:c.3667A>C	XP_005269159.1:p.Thr1223Pro
XM_005269103.1:c.3574A>C	XP_005269160.1:p.Thr1192Pro
XM_005269104.1:c.3388A>C	XP_005269161.1:p.Thr1130Pro
XM_011538693.1:c.2917A>C	XP_011536995.1:p.Thr973Pro
NM_001130420.2:c.3391A>C	NP_001123892.1:p.Thr1131Pro
NM_001330288.1:c.3670A>C	NP_001317217.1:p.Thr1224Pro
NM_003075.4:c.3577A>C	NP_003066.2:p.Thr1193Pro
NM_139067.3:c.3325A>C	NP_620706.1:p.Thr1109Pro
XM_005269102.2:c.3667A>C	XP_005269159.1:p.Thr1223Pro
XM_005269103.2:c.3574A>C	XP_005269160.1:p.Thr1192Pro
XM_011538693.3:c.2917A>C	XP_011536995.1:p.Thr973Pro
XM_017019884.1:c.3322A>C	XP_016875373.1:p.Thr1108Pro
XM_017019885.1:c.3298A>C	XP_016875374.1:p.Thr1100Pro
XM_017019886.1:c.3232A>C	XP_016875375.1:p.Thr1078Pro
XM_017019887.2:c.2824A>C	XP_016875376.1:p.Thr942Pro
XR_002957373.1:n.3454A>C
XR_002957374.1:n.3175A>C
NM_001330288.2:c.3670A>C MANE Select	NP_001317217.1:p.Thr1224Pro
NM_001130420.3:c.3391A>C	NP_001123892.1:p.Thr1131Pro
NM_003075.5:c.3577A>C	NP_003066.2:p.Thr1193Pro
NM_139067.4:c.3325A>C	NP_620706.1:p.Thr1109Pro