Canonical Allele Identifier: CA501202268

Gene: SMARCD2

Linked Data

• ClinVar Variation Id: 2810043
• ClinVar RCV Id: RCV003680255
• dbSNP Id: rs2040279850
• gnomAD v3: 17-63837443-C-T
• gnomAD v4: 17-63837443-C-T
• MyVariant Identifiers: chr17:g.61914803C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63837443C>T , CM000679.2:g.63837443C>T	GRCh38
NC_000017.10:g.61914803C>T , CM000679.1:g.61914803C>T	GRCh37
NC_000017.9:g.59268535C>T	NCBI36
NG_053004.1:g.10549G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000697953.1:n.287G>A
ENST00000698015.1:n.33G>A
ENST00000698016.1:c.258G>A	ENSP00000513502.1:p.Arg86=
ENST00000698021.1:c.62G>A
ENST00000698022.1:c.216G>A	ENSP00000513504.1:p.Arg72=
ENST00000698027.1:c.258G>A	ENSP00000513505.1:p.Arg86=
ENST00000448276.7:c.399G>A MANE Select	ENSP00000392617.2:p.Arg133=
ENST00000225742.13:c.174G>A	ENSP00000225742.9:p.Arg58=
ENST00000323347.14:c.255G>A	ENSP00000318451.10:p.Arg85=
ENST00000448276.6:c.399G>A	ENSP00000392617.2:p.Arg133=
ENST00000577686.1:n.53-206G>A
ENST00000580054.1:c.183G>A	ENSP00000463793.1:p.Arg61=
ENST00000584400.5:c.217-206G>A	ENSP00000464503.1:n.217-206G>A
ENST00000613943.4:c.288G>A	ENSP00000483605.1:p.Arg96=
NM_001098426.1:c.399G>A	NP_001091896.1:p.Arg133=
XM_005257604.2:c.174G>A	XP_005257661.2:p.Arg58=
NM_001330439.1:c.174G>A	NP_001317368.1:p.Arg58=
NM_001330440.1:c.255G>A	NP_001317369.1:p.Arg85=
NM_001098426.2:c.399G>A MANE Select	NP_001091896.1:p.Arg133=
NM_001330440.2:c.255G>A	NP_001317369.1:p.Arg85=