Canonical Allele Identifier: CA385349772

Gene: SMARCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.56178521T>G , CM000674.2:g.56178521T>G	GRCh38
NC_000012.11:g.56572305T>G , CM000674.1:g.56572305T>G	GRCh37
NC_000012.10:g.54858572T>G	NCBI36
NG_047081.1:g.16047A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001330288.2:c.1193A>C MANE Select	NP_001317217.1:p.Asn398Thr
ENST00000550164.6:c.1193A>C MANE Select	ENSP00000449396.1:p.Asn398Thr
NM_001130420.1:c.1193A>C	NP_001123892.1:p.Asn398Thr
NM_001130420.2:c.1193A>C	NP_001123892.1:p.Asn398Thr
NM_001130420.3:c.1193A>C	NP_001123892.1:p.Asn398Thr
NM_001330288.1:c.1193A>C	NP_001317217.1:p.Asn398Thr
NM_003075.3:c.1193A>C	NP_003066.2:p.Asn398Thr
NM_003075.4:c.1193A>C	NP_003066.2:p.Asn398Thr
NM_003075.5:c.1193A>C	NP_003066.2:p.Asn398Thr
NM_139067.2:c.1193A>C	NP_620706.1:p.Asn398Thr
NM_139067.3:c.1193A>C	NP_620706.1:p.Asn398Thr
NM_139067.4:c.1193A>C	NP_620706.1:p.Asn398Thr
ENST00000267064.8:c.1193A>C	ENSP00000267064.4:p.Asn398Thr
ENST00000347471.8:c.1193A>C	ENSP00000302919.4:p.Asn398Thr
ENST00000394023.7:c.1193A>C	ENSP00000377591.3:p.Asn398Thr
ENST00000548130.5:n.537A>C
ENST00000550164.5:c.1193A>C	ENSP00000449396.1:p.Asn398Thr
ENST00000552566.1:n.111A>C
ENST00000552674.5:c.*856A>C	ENSP00000447680.1:n.*856A>C
XM_005269101.1:c.1193A>C	XP_005269158.1:p.Asn398Thr
XM_005269102.1:c.1193A>C	XP_005269159.1:p.Asn398Thr
XM_005269102.2:c.1193A>C	XP_005269159.1:p.Asn398Thr
XM_005269103.1:c.1193A>C	XP_005269160.1:p.Asn398Thr
XM_005269103.2:c.1193A>C	XP_005269160.1:p.Asn398Thr
XM_005269104.1:c.1193A>C	XP_005269161.1:p.Asn398Thr
XM_011538693.1:c.440A>C	XP_011536995.1:p.Asn147Thr
XM_011538693.3:c.440A>C	XP_011536995.1:p.Asn147Thr
XM_011538694.1:c.1193A>C	XP_011536996.1:p.Asn398Thr
XM_017019884.1:c.1193A>C	XP_016875373.1:p.Asn398Thr
XM_017019885.1:c.1193A>C	XP_016875374.1:p.Asn398Thr
XM_017019886.1:c.1193A>C	XP_016875375.1:p.Asn398Thr
XM_017019887.2:c.440A>C	XP_016875376.1:p.Asn147Thr
XR_002957373.1:n.1236A>C
XR_002957374.1:n.1236A>C