Canonical Allele Identifier: CA2639301503

Gene: SMARCD2

Linked Data

• gnomAD v4: 17-63837338-GCCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63837339_63837341del , CM000679.2:g.63837339_63837341del	GRCh38
NC_000017.10:g.61914699_61914701del , CM000679.1:g.61914699_61914701del	GRCh37
NC_000017.9:g.59268431_59268433del	NCBI36
NG_053004.1:g.10651_10653del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697953.1:n.389_391del
ENST00000698015.1:n.35+100_36-102del
ENST00000698016.1:c.260+100_261-102del	ENSP00000513502.1:n.260+100_261-102del
ENST00000698020.1:n.87_89del
ENST00000698021.1:c.64+100_65-102del
ENST00000698022.1:c.218+100_219-102del	ENSP00000513504.1:n.218+100_219-102del
ENST00000698027.1:c.260+100_261-102del	ENSP00000513505.1:n.260+100_261-102del
ENST00000448276.7:c.401+100_402-102del MANE Select	ENSP00000392617.2:n.401+100_402-102del
ENST00000225742.13:c.176+100_177-102del	ENSP00000225742.9:n.176+100_177-102del
ENST00000323347.14:c.257+100_258-102del	ENSP00000318451.10:n.257+100_258-102del
ENST00000448276.6:c.401+100_402-102del	ENSP00000392617.2:n.401+100_402-102del
ENST00000577686.1:n.53-104_53-102del
ENST00000580054.1:c.185+100_186-102del	ENSP00000463793.1:n.185+100_186-102del
ENST00000584400.5:c.217-104_217-102del	ENSP00000464503.1:n.217-104_217-102del
ENST00000613943.4:c.290+100_291-102del	ENSP00000483605.1:n.290+100_291-102del
NM_001098426.1:c.401+100_402-102del	NP_001091896.1:n.401+100_402-102del
XM_005257604.2:c.176+100_177-102del	XP_005257661.2:n.176+100_177-102del
NM_001330439.1:c.176+100_177-102del	NP_001317368.1:n.176+100_177-102del
NM_001330440.1:c.257+100_258-102del	NP_001317369.1:n.257+100_258-102del
NM_001098426.2:c.401+100_402-102del MANE Select	NP_001091896.1:n.401+100_402-102del
NM_001330440.2:c.257+100_258-102del	NP_001317369.1:n.257+100_258-102del