Canonical Allele Identifier: CA2842454463

Gene: SMARCD2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63837470_63837471insCCAGC , CM000679.2:g.63837470_63837471insCCAGC	GRCh38
NC_000017.10:g.61914830_61914831insCCAGC , CM000679.1:g.61914830_61914831insCCAGC	GRCh37
NC_000017.9:g.59268562_59268563insCCAGC	NCBI36
NG_053004.1:g.10523_10524insTGGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697953.1:n.261_262insTGGGC
ENST00000698015.1:n.7_8insTGGGC
ENST00000698016.1:c.232_233insTGGGC	ENSP00000513502.1:p.Gln78LeufsTer13
ENST00000698021.1:c.36_37insTGGGC
ENST00000698022.1:c.190_191insTGGGC	ENSP00000513504.1:p.Gln64LeufsTer13
ENST00000698027.1:c.232_233insTGGGC	ENSP00000513505.1:p.Gln78LeufsTer13
ENST00000448276.7:c.373_374insTGGGC MANE Select	ENSP00000392617.2:p.Gln125LeufsTer13
ENST00000225742.13:c.148_149insTGGGC	ENSP00000225742.9:p.Gln50LeufsTer13
ENST00000323347.14:c.229_230insTGGGC	ENSP00000318451.10:p.Gln77LeufsTer13
ENST00000448276.6:c.373_374insTGGGC	ENSP00000392617.2:p.Gln125LeufsTer13
ENST00000577686.1:n.53-232_53-231insTGGGC
ENST00000580054.1:c.157_158insTGGGC	ENSP00000463793.1:p.Gln53LeufsTer13
ENST00000584400.5:c.217-232_217-231insTGGGC	ENSP00000464503.1:n.217-232_217-231insTGGGC
ENST00000613943.4:c.262_263insTGGGC	ENSP00000483605.1:p.Gln88LeufsTer13
NM_001098426.1:c.373_374insTGGGC	NP_001091896.1:p.Gln125LeufsTer13
XM_005257604.2:c.148_149insTGGGC	XP_005257661.2:p.Gln50LeufsTer13
NM_001330439.1:c.148_149insTGGGC	NP_001317368.1:p.Gln50LeufsTer13
NM_001330440.1:c.229_230insTGGGC	NP_001317369.1:p.Gln77LeufsTer13
NM_001098426.2:c.373_374insTGGGC MANE Select	NP_001091896.1:p.Gln125LeufsTer13
NM_001330440.2:c.229_230insTGGGC	NP_001317369.1:p.Gln77LeufsTer13