Canonical Allele Identifier: CA690173517

Gene: SMARCC2

Linked Data

• dbSNP Id: rs1420595660
• gnomAD v3: 12-56163831-CACAG-C
• gnomAD v4: 12-56163831-CACAG-C
• MyVariant Identifiers: chr12:g.56557616_56557619del (hg19) ; chr12:g.56163832_56163835del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.56163841_56163844del , CM000674.2:g.56163841_56163844del	GRCh38
NC_000012.11:g.56557625_56557628del , CM000674.1:g.56557625_56557628del	GRCh37
NC_000012.10:g.54843892_54843895del	NCBI36
NG_047081.1:g.30733_30736del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000550164.6:c.3662-70_3662-67del MANE Select	ENSP00000449396.1:n.3662-70_3662-67del
ENST00000267064.8:c.3569-70_3569-67del	ENSP00000267064.4:n.3569-70_3569-67del
ENST00000347471.8:c.3317-70_3317-67del	ENSP00000302919.4:n.3317-70_3317-67del
ENST00000394023.7:c.3383-70_3383-67del	ENSP00000377591.3:n.3383-70_3383-67del
ENST00000550164.5:c.3662-70_3662-67del	ENSP00000449396.1:n.3662-70_3662-67del
ENST00000552674.5:c.*2980-70_*2980-67del	ENSP00000447680.1:n.*2980-70_*2980-67del
NM_001130420.1:c.3383-70_3383-67del	NP_001123892.1:n.3383-70_3383-67del
NM_003075.3:c.3569-70_3569-67del	NP_003066.2:n.3569-70_3569-67del
NM_139067.2:c.3317-70_3317-67del	NP_620706.1:n.3317-70_3317-67del
XM_005269101.1:c.3662-70_3662-67del	XP_005269158.1:n.3662-70_3662-67del
XM_005269102.1:c.3659-70_3659-67del	XP_005269159.1:n.3659-70_3659-67del
XM_005269103.1:c.3566-70_3566-67del	XP_005269160.1:n.3566-70_3566-67del
XM_005269104.1:c.3380-70_3380-67del	XP_005269161.1:n.3380-70_3380-67del
XM_011538693.1:c.2909-70_2909-67del	XP_011536995.1:n.2909-70_2909-67del
NM_001130420.2:c.3383-70_3383-67del	NP_001123892.1:n.3383-70_3383-67del
NM_001330288.1:c.3662-70_3662-67del	NP_001317217.1:n.3662-70_3662-67del
NM_003075.4:c.3569-70_3569-67del	NP_003066.2:n.3569-70_3569-67del
NM_139067.3:c.3317-70_3317-67del	NP_620706.1:n.3317-70_3317-67del
XM_005269102.2:c.3659-70_3659-67del	XP_005269159.1:n.3659-70_3659-67del
XM_005269103.2:c.3566-70_3566-67del	XP_005269160.1:n.3566-70_3566-67del
XM_011538693.3:c.2909-70_2909-67del	XP_011536995.1:n.2909-70_2909-67del
XM_017019884.1:c.3314-70_3314-67del	XP_016875373.1:n.3314-70_3314-67del
XM_017019885.1:c.3290-70_3290-67del	XP_016875374.1:n.3290-70_3290-67del
XM_017019886.1:c.3224-70_3224-67del	XP_016875375.1:n.3224-70_3224-67del
XM_017019887.2:c.2816-70_2816-67del	XP_016875376.1:n.2816-70_2816-67del
XR_002957373.1:n.3446-70_3446-67del
XR_002957374.1:n.3167-70_3167-67del
NM_001330288.2:c.3662-70_3662-67del MANE Select	NP_001317217.1:n.3662-70_3662-67del
NM_001130420.3:c.3383-70_3383-67del	NP_001123892.1:n.3383-70_3383-67del
NM_003075.5:c.3569-70_3569-67del	NP_003066.2:n.3569-70_3569-67del
NM_139067.4:c.3317-70_3317-67del	NP_620706.1:n.3317-70_3317-67del