Canonical Allele Identifier: CA400601527

Gene: SMARCD2

Linked Data

• dbSNP Id: rs1472201782
• gnomAD v2: 17-61914843-A-T
• gnomAD v4: 17-63837483-A-T
• MyVariant Identifiers: chr17:g.61914843A>T (hg19) ; chr17:g.63837483A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63837483A>T , CM000679.2:g.63837483A>T	GRCh38
NC_000017.10:g.61914843A>T , CM000679.1:g.61914843A>T	GRCh37
NC_000017.9:g.59268575A>T	NCBI36
NG_053004.1:g.10509T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697953.1:n.247T>A
ENST00000698016.1:c.218T>A	ENSP00000513502.1:p.Leu73His
ENST00000698021.1:c.22T>A
ENST00000698022.1:c.176T>A	ENSP00000513504.1:p.Leu59His
ENST00000698027.1:c.218T>A	ENSP00000513505.1:p.Leu73His
ENST00000448276.7:c.359T>A MANE Select	ENSP00000392617.2:p.Leu120His
ENST00000225742.13:c.134T>A	ENSP00000225742.9:p.Leu45His
ENST00000323347.14:c.215T>A	ENSP00000318451.10:p.Leu72His
ENST00000448276.6:c.359T>A	ENSP00000392617.2:p.Leu120His
ENST00000577686.1:n.53-246T>A
ENST00000580054.1:c.143T>A	ENSP00000463793.1:p.Leu48His
ENST00000584400.5:c.217-246T>A	ENSP00000464503.1:n.217-246T>A
ENST00000613943.4:c.248T>A	ENSP00000483605.1:p.Leu83His
NM_001098426.1:c.359T>A	NP_001091896.1:p.Leu120His
XM_005257604.2:c.134T>A	XP_005257661.2:p.Leu45His
NM_001330439.1:c.134T>A	NP_001317368.1:p.Leu45His
NM_001330440.1:c.215T>A	NP_001317369.1:p.Leu72His
NM_001098426.2:c.359T>A MANE Select	NP_001091896.1:p.Leu120His
NM_001330440.2:c.215T>A	NP_001317369.1:p.Leu72His