Canonical Allele Identifier: CA400601535

Gene: SMARCD2

Linked Data

• MyVariant Identifiers: chr17:g.61914847G>T (hg19) ; chr17:g.63837487G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63837487G>T , CM000679.2:g.63837487G>T	GRCh38
NC_000017.10:g.61914847G>T , CM000679.1:g.61914847G>T	GRCh37
NC_000017.9:g.59268579G>T	NCBI36
NG_053004.1:g.10505C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697953.1:n.243C>A
ENST00000698016.1:c.214C>A	ENSP00000513502.1:p.Leu72Met
ENST00000698021.1:c.18C>A
ENST00000698022.1:c.172C>A	ENSP00000513504.1:p.Leu58Met
ENST00000698027.1:c.214C>A	ENSP00000513505.1:p.Leu72Met
ENST00000448276.7:c.355C>A MANE Select	ENSP00000392617.2:p.Leu119Met
ENST00000225742.13:c.130C>A	ENSP00000225742.9:p.Leu44Met
ENST00000323347.14:c.211C>A	ENSP00000318451.10:p.Leu71Met
ENST00000448276.6:c.355C>A	ENSP00000392617.2:p.Leu119Met
ENST00000577686.1:n.53-250C>A
ENST00000580054.1:c.139C>A	ENSP00000463793.1:p.Leu47Met
ENST00000584400.5:c.217-250C>A	ENSP00000464503.1:n.217-250C>A
ENST00000613943.4:c.244C>A	ENSP00000483605.1:p.Leu82Met
NM_001098426.1:c.355C>A	NP_001091896.1:p.Leu119Met
XM_005257604.2:c.130C>A	XP_005257661.2:p.Leu44Met
NM_001330439.1:c.130C>A	NP_001317368.1:p.Leu44Met
NM_001330440.1:c.211C>A	NP_001317369.1:p.Leu71Met
NM_001098426.2:c.355C>A MANE Select	NP_001091896.1:p.Leu119Met
NM_001330440.2:c.211C>A	NP_001317369.1:p.Leu71Met