Canonical Allele Identifier: CA480194110

Gene: SMARCC2

Linked Data

• gnomAD v4: 12-56163761-T-G
• MyVariant Identifiers: chr12:g.56557545T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.56163761T>G , CM000674.2:g.56163761T>G	GRCh38
NC_000012.11:g.56557545T>G , CM000674.1:g.56557545T>G	GRCh37
NC_000012.10:g.54843812T>G	NCBI36
NG_047081.1:g.30807A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000550164.6:c.3666A>C MANE Select	ENSP00000449396.1:p.Pro1222=
ENST00000267064.8:c.3573A>C	ENSP00000267064.4:p.Pro1191=
ENST00000347471.8:c.3321A>C	ENSP00000302919.4:p.Pro1107=
ENST00000394023.7:c.3387A>C	ENSP00000377591.3:p.Pro1129=
ENST00000550164.5:c.3666A>C	ENSP00000449396.1:p.Pro1222=
ENST00000552674.5:c.*2984A>C	ENSP00000447680.1:n.*2984A>C
NM_001130420.1:c.3387A>C	NP_001123892.1:p.Pro1129=
NM_003075.3:c.3573A>C	NP_003066.2:p.Pro1191=
NM_139067.2:c.3321A>C	NP_620706.1:p.Pro1107=
XM_005269101.1:c.3666A>C	XP_005269158.1:p.Pro1222=
XM_005269102.1:c.3663A>C	XP_005269159.1:p.Pro1221=
XM_005269103.1:c.3570A>C	XP_005269160.1:p.Pro1190=
XM_005269104.1:c.3384A>C	XP_005269161.1:p.Pro1128=
XM_011538693.1:c.2913A>C	XP_011536995.1:p.Pro971=
NM_001130420.2:c.3387A>C	NP_001123892.1:p.Pro1129=
NM_001330288.1:c.3666A>C	NP_001317217.1:p.Pro1222=
NM_003075.4:c.3573A>C	NP_003066.2:p.Pro1191=
NM_139067.3:c.3321A>C	NP_620706.1:p.Pro1107=
XM_005269102.2:c.3663A>C	XP_005269159.1:p.Pro1221=
XM_005269103.2:c.3570A>C	XP_005269160.1:p.Pro1190=
XM_011538693.3:c.2913A>C	XP_011536995.1:p.Pro971=
XM_017019884.1:c.3318A>C	XP_016875373.1:p.Pro1106=
XM_017019885.1:c.3294A>C	XP_016875374.1:p.Pro1098=
XM_017019886.1:c.3228A>C	XP_016875375.1:p.Pro1076=
XM_017019887.2:c.2820A>C	XP_016875376.1:p.Pro940=
XR_002957373.1:n.3450A>C
XR_002957374.1:n.3171A>C
NM_001330288.2:c.3666A>C MANE Select	NP_001317217.1:p.Pro1222=
NM_001130420.3:c.3387A>C	NP_001123892.1:p.Pro1129=
NM_003075.5:c.3573A>C	NP_003066.2:p.Pro1191=
NM_139067.4:c.3321A>C	NP_620706.1:p.Pro1107=