Canonical Allele Identifier: CA2270105580
Gene: SMARCD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63837527_63837528delinsAG , CM000679.2:g.63837527_63837528delinsAG GRCh38
NC_000017.10:g.61914887_61914888delinsAG , CM000679.1:g.61914887_61914888delinsAG GRCh37
NC_000017.9:g.59268619_59268620delinsAG NCBI36
NG_053004.1:g.10464_10465delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000697953.1:n.202_203delinsCT
ENST00000698016.1:c.173_174delinsCT ENSP00000513502.1:p.Pro58=
ENST00000698022.1:c.131_132delinsCT ENSP00000513504.1:p.Pro44=
ENST00000698027.1:c.173_174delinsCT ENSP00000513505.1:p.Pro58=
ENST00000448276.7:c.314_315delinsCT MANE Select ENSP00000392617.2:p.Pro105=
ENST00000225742.13:c.89_90delinsCT ENSP00000225742.9:p.Pro30=
ENST00000323347.14:c.170_171delinsCT ENSP00000318451.10:p.Pro57=
ENST00000448276.6:c.314_315delinsCT ENSP00000392617.2:p.Pro105=
ENST00000577686.1:n.53-291_53-290delinsCT
ENST00000580054.1:c.98_99delinsCT ENSP00000463793.1:p.Pro33=
ENST00000584400.5:c.217-291_217-290delinsCT ENSP00000464503.1:n.217-291_217-290delinsCT
ENST00000613943.4:c.203_204delinsCT ENSP00000483605.1:p.Pro68=
NM_001098426.1:c.314_315delinsCT NP_001091896.1:p.Pro105=
XM_005257604.2:c.89_90delinsCT XP_005257661.2:p.Pro30=
NM_001330439.1:c.89_90delinsCT NP_001317368.1:p.Pro30=
NM_001330440.1:c.170_171delinsCT NP_001317369.1:p.Pro57=
NM_001098426.2:c.314_315delinsCT MANE Select NP_001091896.1:p.Pro105=
NM_001330440.2:c.170_171delinsCT NP_001317369.1:p.Pro57=