Canonical Allele Identifier: CA690173478
Gene: SMARCC2 HGNC NCBI

Linked Data

dbSNP Id: rs1482457920

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.56163782_56163783del , CM000674.2:g.56163782_56163783del GRCh38
NC_000012.11:g.56557566_56557567del , CM000674.1:g.56557566_56557567del GRCh37
NC_000012.10:g.54843833_54843834del NCBI36
NG_047081.1:g.30786_30787del

Transcript Alleles

HGVS Amino-acid Change
ENST00000550164.6:c.3662-17_3662-16del MANE Select ENSP00000449396.1:n.3662-17_3662-16del
ENST00000267064.8:c.3569-17_3569-16del ENSP00000267064.4:n.3569-17_3569-16del
ENST00000347471.8:c.3317-17_3317-16del ENSP00000302919.4:n.3317-17_3317-16del
ENST00000394023.7:c.3383-17_3383-16del ENSP00000377591.3:n.3383-17_3383-16del
ENST00000550164.5:c.3662-17_3662-16del ENSP00000449396.1:n.3662-17_3662-16del
ENST00000552674.5:c.*2980-17_*2980-16del ENSP00000447680.1:n.*2980-17_*2980-16del
NM_001130420.1:c.3383-17_3383-16del NP_001123892.1:n.3383-17_3383-16del
NM_003075.3:c.3569-17_3569-16del NP_003066.2:n.3569-17_3569-16del
NM_139067.2:c.3317-17_3317-16del NP_620706.1:n.3317-17_3317-16del
XM_005269101.1:c.3662-17_3662-16del XP_005269158.1:n.3662-17_3662-16del
XM_005269102.1:c.3659-17_3659-16del XP_005269159.1:n.3659-17_3659-16del
XM_005269103.1:c.3566-17_3566-16del XP_005269160.1:n.3566-17_3566-16del
XM_005269104.1:c.3380-17_3380-16del XP_005269161.1:n.3380-17_3380-16del
XM_011538693.1:c.2909-17_2909-16del XP_011536995.1:n.2909-17_2909-16del
NM_001130420.2:c.3383-17_3383-16del NP_001123892.1:n.3383-17_3383-16del
NM_001330288.1:c.3662-17_3662-16del NP_001317217.1:n.3662-17_3662-16del
NM_003075.4:c.3569-17_3569-16del NP_003066.2:n.3569-17_3569-16del
NM_139067.3:c.3317-17_3317-16del NP_620706.1:n.3317-17_3317-16del
XM_005269102.2:c.3659-17_3659-16del XP_005269159.1:n.3659-17_3659-16del
XM_005269103.2:c.3566-17_3566-16del XP_005269160.1:n.3566-17_3566-16del
XM_011538693.3:c.2909-17_2909-16del XP_011536995.1:n.2909-17_2909-16del
XM_017019884.1:c.3314-17_3314-16del XP_016875373.1:n.3314-17_3314-16del
XM_017019885.1:c.3290-17_3290-16del XP_016875374.1:n.3290-17_3290-16del
XM_017019886.1:c.3224-17_3224-16del XP_016875375.1:n.3224-17_3224-16del
XM_017019887.2:c.2816-17_2816-16del XP_016875376.1:n.2816-17_2816-16del
XR_002957373.1:n.3446-17_3446-16del
XR_002957374.1:n.3167-17_3167-16del
NM_001330288.2:c.3662-17_3662-16del MANE Select NP_001317217.1:n.3662-17_3662-16del
NM_001130420.3:c.3383-17_3383-16del NP_001123892.1:n.3383-17_3383-16del
NM_003075.5:c.3569-17_3569-16del NP_003066.2:n.3569-17_3569-16del
NM_139067.4:c.3317-17_3317-16del NP_620706.1:n.3317-17_3317-16del