Canonical Allele Identifier: CA385337606

Gene: SMARCC2

Linked Data

• MyVariant Identifiers: chr12:g.56557549T>A (hg19) ; chr12:g.56163765T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.56163765T>A , CM000674.2:g.56163765T>A	GRCh38
NC_000012.11:g.56557549T>A , CM000674.1:g.56557549T>A	GRCh37
NC_000012.10:g.54843816T>A	NCBI36
NG_047081.1:g.30803A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000550164.6:c.3662A>T MANE Select	ENSP00000449396.1:p.Asp1221Val
ENST00000267064.8:c.3569A>T	ENSP00000267064.4:p.Asp1190Val
ENST00000347471.8:c.3317A>T	ENSP00000302919.4:p.Asp1106Val
ENST00000394023.7:c.3383A>T	ENSP00000377591.3:p.Asp1128Val
ENST00000550164.5:c.3662A>T	ENSP00000449396.1:p.Asp1221Val
ENST00000552674.5:c.*2980A>T	ENSP00000447680.1:n.*2980A>T
NM_001130420.1:c.3383A>T	NP_001123892.1:p.Asp1128Val
NM_003075.3:c.3569A>T	NP_003066.2:p.Asp1190Val
NM_139067.2:c.3317A>T	NP_620706.1:p.Asp1106Val
XM_005269101.1:c.3662A>T	XP_005269158.1:p.Asp1221Val
XM_005269102.1:c.3659A>T	XP_005269159.1:p.Asp1220Val
XM_005269103.1:c.3566A>T	XP_005269160.1:p.Asp1189Val
XM_005269104.1:c.3380A>T	XP_005269161.1:p.Asp1127Val
XM_011538693.1:c.2909A>T	XP_011536995.1:p.Asp970Val
NM_001130420.2:c.3383A>T	NP_001123892.1:p.Asp1128Val
NM_001330288.1:c.3662A>T	NP_001317217.1:p.Asp1221Val
NM_003075.4:c.3569A>T	NP_003066.2:p.Asp1190Val
NM_139067.3:c.3317A>T	NP_620706.1:p.Asp1106Val
XM_005269102.2:c.3659A>T	XP_005269159.1:p.Asp1220Val
XM_005269103.2:c.3566A>T	XP_005269160.1:p.Asp1189Val
XM_011538693.3:c.2909A>T	XP_011536995.1:p.Asp970Val
XM_017019884.1:c.3314A>T	XP_016875373.1:p.Asp1105Val
XM_017019885.1:c.3290A>T	XP_016875374.1:p.Asp1097Val
XM_017019886.1:c.3224A>T	XP_016875375.1:p.Asp1075Val
XM_017019887.2:c.2816A>T	XP_016875376.1:p.Asp939Val
XR_002957373.1:n.3446A>T
XR_002957374.1:n.3167A>T
NM_001330288.2:c.3662A>T MANE Select	NP_001317217.1:p.Asp1221Val
NM_001130420.3:c.3383A>T	NP_001123892.1:p.Asp1128Val
NM_003075.5:c.3569A>T	NP_003066.2:p.Asp1190Val
NM_139067.4:c.3317A>T	NP_620706.1:p.Asp1106Val