Canonical Allele Identifier: CA480194107

Gene: SMARCC2

Linked Data

• gnomAD v4: 12-56163758-G-C
• MyVariant Identifiers: chr12:g.56557542G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.56163758G>C , CM000674.2:g.56163758G>C	GRCh38
NC_000012.11:g.56557542G>C , CM000674.1:g.56557542G>C	GRCh37
NC_000012.10:g.54843809G>C	NCBI36
NG_047081.1:g.30810C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000550164.6:c.3669C>G MANE Select	ENSP00000449396.1:p.Gly1223=
ENST00000267064.8:c.3576C>G	ENSP00000267064.4:p.Gly1192=
ENST00000347471.8:c.3324C>G	ENSP00000302919.4:p.Gly1108=
ENST00000394023.7:c.3390C>G	ENSP00000377591.3:p.Gly1130=
ENST00000550164.5:c.3669C>G	ENSP00000449396.1:p.Gly1223=
ENST00000552674.5:c.*2987C>G	ENSP00000447680.1:n.*2987C>G
NM_001130420.1:c.3390C>G	NP_001123892.1:p.Gly1130=
NM_003075.3:c.3576C>G	NP_003066.2:p.Gly1192=
NM_139067.2:c.3324C>G	NP_620706.1:p.Gly1108=
XM_005269101.1:c.3669C>G	XP_005269158.1:p.Gly1223=
XM_005269102.1:c.3666C>G	XP_005269159.1:p.Gly1222=
XM_005269103.1:c.3573C>G	XP_005269160.1:p.Gly1191=
XM_005269104.1:c.3387C>G	XP_005269161.1:p.Gly1129=
XM_011538693.1:c.2916C>G	XP_011536995.1:p.Gly972=
NM_001130420.2:c.3390C>G	NP_001123892.1:p.Gly1130=
NM_001330288.1:c.3669C>G	NP_001317217.1:p.Gly1223=
NM_003075.4:c.3576C>G	NP_003066.2:p.Gly1192=
NM_139067.3:c.3324C>G	NP_620706.1:p.Gly1108=
XM_005269102.2:c.3666C>G	XP_005269159.1:p.Gly1222=
XM_005269103.2:c.3573C>G	XP_005269160.1:p.Gly1191=
XM_011538693.3:c.2916C>G	XP_011536995.1:p.Gly972=
XM_017019884.1:c.3321C>G	XP_016875373.1:p.Gly1107=
XM_017019885.1:c.3297C>G	XP_016875374.1:p.Gly1099=
XM_017019886.1:c.3231C>G	XP_016875375.1:p.Gly1077=
XM_017019887.2:c.2823C>G	XP_016875376.1:p.Gly941=
XR_002957373.1:n.3453C>G
XR_002957374.1:n.3174C>G
NM_001330288.2:c.3669C>G MANE Select	NP_001317217.1:p.Gly1223=
NM_001130420.3:c.3390C>G	NP_001123892.1:p.Gly1130=
NM_003075.5:c.3576C>G	NP_003066.2:p.Gly1192=
NM_139067.4:c.3324C>G	NP_620706.1:p.Gly1108=