Canonical Allele Identifier: CA400601452

Gene: SMARCD2

Linked Data

• ClinVar Variation Id: 1387509
• ClinVar RCV Id: RCV001884088
• dbSNP Id: rs1411242310
• gnomAD v4: 17-63837444-C-T
• MyVariant Identifiers: chr17:g.61914804C>T (hg19) ; chr17:g.63837444C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63837444C>T , CM000679.2:g.63837444C>T	GRCh38
NC_000017.10:g.61914804C>T , CM000679.1:g.61914804C>T	GRCh37
NC_000017.9:g.59268536C>T	NCBI36
NG_053004.1:g.10548G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000697953.1:n.286G>A
ENST00000698015.1:n.32G>A
ENST00000698016.1:c.257G>A	ENSP00000513502.1:p.Arg86Gln
ENST00000698021.1:c.61G>A
ENST00000698022.1:c.215G>A	ENSP00000513504.1:p.Arg72Gln
ENST00000698027.1:c.257G>A	ENSP00000513505.1:p.Arg86Gln
ENST00000448276.7:c.398G>A MANE Select	ENSP00000392617.2:p.Arg133Gln
ENST00000225742.13:c.173G>A	ENSP00000225742.9:p.Arg58Gln
ENST00000323347.14:c.254G>A	ENSP00000318451.10:p.Arg85Gln
ENST00000448276.6:c.398G>A	ENSP00000392617.2:p.Arg133Gln
ENST00000577686.1:n.53-207G>A
ENST00000580054.1:c.182G>A	ENSP00000463793.1:p.Arg61Gln
ENST00000584400.5:c.217-207G>A	ENSP00000464503.1:n.217-207G>A
ENST00000613943.4:c.287G>A	ENSP00000483605.1:p.Arg96Gln
NM_001098426.1:c.398G>A	NP_001091896.1:p.Arg133Gln
XM_005257604.2:c.173G>A	XP_005257661.2:p.Arg58Gln
NM_001330439.1:c.173G>A	NP_001317368.1:p.Arg58Gln
NM_001330440.1:c.254G>A	NP_001317369.1:p.Arg85Gln
NM_001098426.2:c.398G>A MANE Select	NP_001091896.1:p.Arg133Gln
NM_001330440.2:c.254G>A	NP_001317369.1:p.Arg85Gln