Canonical Allele Identifier: CA2639301722

Gene: SMARCD2

Linked Data

• gnomAD v4: 17-63837524-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63837526del , CM000679.2:g.63837526del	GRCh38
NC_000017.10:g.61914886del , CM000679.1:g.61914886del	GRCh37
NC_000017.9:g.59268618del	NCBI36
NG_053004.1:g.10467del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697953.1:n.205del
ENST00000698016.1:c.176del	ENSP00000513502.1:p.Gly59AlafsTer6
ENST00000698022.1:c.134del	ENSP00000513504.1:p.Gly45AlafsTer6
ENST00000698027.1:c.176del	ENSP00000513505.1:p.Gly59AlafsTer6
ENST00000448276.7:c.317del MANE Select	ENSP00000392617.2:p.Gly106AlafsTer6
ENST00000225742.13:c.92del	ENSP00000225742.9:p.Gly31AlafsTer6
ENST00000323347.14:c.173del	ENSP00000318451.10:p.Gly58AlafsTer6
ENST00000448276.6:c.317del	ENSP00000392617.2:p.Gly106AlafsTer6
ENST00000577686.1:n.53-288del
ENST00000580054.1:c.101del	ENSP00000463793.1:p.Gly34AlafsTer6
ENST00000584400.5:c.217-288del	ENSP00000464503.1:n.217-288del
ENST00000613943.4:c.206del	ENSP00000483605.1:p.Gly69AlafsTer6
NM_001098426.1:c.317del	NP_001091896.1:p.Gly106AlafsTer6
XM_005257604.2:c.92del	XP_005257661.2:p.Gly31AlafsTer6
NM_001330439.1:c.92del	NP_001317368.1:p.Gly31AlafsTer6
NM_001330440.1:c.173del	NP_001317369.1:p.Gly58AlafsTer6
NM_001098426.2:c.317del MANE Select	NP_001091896.1:p.Gly106AlafsTer6
NM_001330440.2:c.173del	NP_001317369.1:p.Gly58AlafsTer6