Canonical Allele Identifier: CA385337604

Gene: SMARCC2

Linked Data

• gnomAD v4: 12-56163763-G-A
• MyVariant Identifiers: chr12:g.56557547G>A (hg19) ; chr12:g.56163763G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.56163763G>A , CM000674.2:g.56163763G>A	GRCh38
NC_000012.11:g.56557547G>A , CM000674.1:g.56557547G>A	GRCh37
NC_000012.10:g.54843814G>A	NCBI36
NG_047081.1:g.30805C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000550164.6:c.3664C>T MANE Select	ENSP00000449396.1:p.Pro1222Ser
ENST00000267064.8:c.3571C>T	ENSP00000267064.4:p.Pro1191Ser
ENST00000347471.8:c.3319C>T	ENSP00000302919.4:p.Pro1107Ser
ENST00000394023.7:c.3385C>T	ENSP00000377591.3:p.Pro1129Ser
ENST00000550164.5:c.3664C>T	ENSP00000449396.1:p.Pro1222Ser
ENST00000552674.5:c.*2982C>T	ENSP00000447680.1:n.*2982C>T
NM_001130420.1:c.3385C>T	NP_001123892.1:p.Pro1129Ser
NM_003075.3:c.3571C>T	NP_003066.2:p.Pro1191Ser
NM_139067.2:c.3319C>T	NP_620706.1:p.Pro1107Ser
XM_005269101.1:c.3664C>T	XP_005269158.1:p.Pro1222Ser
XM_005269102.1:c.3661C>T	XP_005269159.1:p.Pro1221Ser
XM_005269103.1:c.3568C>T	XP_005269160.1:p.Pro1190Ser
XM_005269104.1:c.3382C>T	XP_005269161.1:p.Pro1128Ser
XM_011538693.1:c.2911C>T	XP_011536995.1:p.Pro971Ser
NM_001130420.2:c.3385C>T	NP_001123892.1:p.Pro1129Ser
NM_001330288.1:c.3664C>T	NP_001317217.1:p.Pro1222Ser
NM_003075.4:c.3571C>T	NP_003066.2:p.Pro1191Ser
NM_139067.3:c.3319C>T	NP_620706.1:p.Pro1107Ser
XM_005269102.2:c.3661C>T	XP_005269159.1:p.Pro1221Ser
XM_005269103.2:c.3568C>T	XP_005269160.1:p.Pro1190Ser
XM_011538693.3:c.2911C>T	XP_011536995.1:p.Pro971Ser
XM_017019884.1:c.3316C>T	XP_016875373.1:p.Pro1106Ser
XM_017019885.1:c.3292C>T	XP_016875374.1:p.Pro1098Ser
XM_017019886.1:c.3226C>T	XP_016875375.1:p.Pro1076Ser
XM_017019887.2:c.2818C>T	XP_016875376.1:p.Pro940Ser
XR_002957373.1:n.3448C>T
XR_002957374.1:n.3169C>T
NM_001330288.2:c.3664C>T MANE Select	NP_001317217.1:p.Pro1222Ser
NM_001130420.3:c.3385C>T	NP_001123892.1:p.Pro1129Ser
NM_003075.5:c.3571C>T	NP_003066.2:p.Pro1191Ser
NM_139067.4:c.3319C>T	NP_620706.1:p.Pro1107Ser