Canonical Allele Identifier: CA2639301492

Gene: SMARCD2

Linked Data

• gnomAD v4: 17-63837335-A-AGAGCCTG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63837339_63837345dup , CM000679.2:g.63837339_63837345dup	GRCh38
NC_000017.10:g.61914699_61914705dup , CM000679.1:g.61914699_61914705dup	GRCh37
NC_000017.9:g.59268431_59268437dup	NCBI36
NG_053004.1:g.10650_10656dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000697953.1:n.388_394dup
ENST00000698015.1:n.35+99_36-99dup
ENST00000698016.1:c.260+99_261-99dup	ENSP00000513502.1:n.260+99_261-99dup
ENST00000698020.1:n.86_92dup
ENST00000698021.1:c.64+99_65-99dup
ENST00000698022.1:c.218+99_219-99dup	ENSP00000513504.1:n.218+99_219-99dup
ENST00000698027.1:c.260+99_261-99dup	ENSP00000513505.1:n.260+99_261-99dup
ENST00000448276.7:c.401+99_402-99dup MANE Select	ENSP00000392617.2:n.401+99_402-99dup
ENST00000225742.13:c.176+99_177-99dup	ENSP00000225742.9:n.176+99_177-99dup
ENST00000323347.14:c.257+99_258-99dup	ENSP00000318451.10:n.257+99_258-99dup
ENST00000448276.6:c.401+99_402-99dup	ENSP00000392617.2:n.401+99_402-99dup
ENST00000577686.1:n.53-105_53-99dup
ENST00000580054.1:c.185+99_186-99dup	ENSP00000463793.1:n.185+99_186-99dup
ENST00000584400.5:c.217-105_217-99dup	ENSP00000464503.1:n.217-105_217-99dup
ENST00000613943.4:c.290+99_291-99dup	ENSP00000483605.1:n.290+99_291-99dup
NM_001098426.1:c.401+99_402-99dup	NP_001091896.1:n.401+99_402-99dup
XM_005257604.2:c.176+99_177-99dup	XP_005257661.2:n.176+99_177-99dup
NM_001330439.1:c.176+99_177-99dup	NP_001317368.1:n.176+99_177-99dup
NM_001330440.1:c.257+99_258-99dup	NP_001317369.1:n.257+99_258-99dup
NM_001098426.2:c.401+99_402-99dup MANE Select	NP_001091896.1:n.401+99_402-99dup
NM_001330440.2:c.257+99_258-99dup	NP_001317369.1:n.257+99_258-99dup