Canonical Allele Identifier: CA400601534

Gene: SMARCD2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697953.1:n.243C>G
ENST00000698016.1:c.214C>G	ENSP00000513502.1:p.Leu72Val
ENST00000698021.1:c.18C>G
ENST00000698022.1:c.172C>G	ENSP00000513504.1:p.Leu58Val
ENST00000698027.1:c.214C>G	ENSP00000513505.1:p.Leu72Val
ENST00000448276.7:c.355C>G MANE Select	ENSP00000392617.2:p.Leu119Val
ENST00000225742.13:c.130C>G	ENSP00000225742.9:p.Leu44Val
ENST00000323347.14:c.211C>G	ENSP00000318451.10:p.Leu71Val
ENST00000448276.6:c.355C>G	ENSP00000392617.2:p.Leu119Val
ENST00000577686.1:n.53-250C>G
ENST00000580054.1:c.139C>G	ENSP00000463793.1:p.Leu47Val
ENST00000584400.5:c.217-250C>G	ENSP00000464503.1:n.217-250C>G
ENST00000613943.4:c.244C>G	ENSP00000483605.1:p.Leu82Val
NM_001098426.1:c.355C>G	NP_001091896.1:p.Leu119Val
XM_005257604.2:c.130C>G	XP_005257661.2:p.Leu44Val
NM_001330439.1:c.130C>G	NP_001317368.1:p.Leu44Val
NM_001330440.1:c.211C>G	NP_001317369.1:p.Leu71Val
NM_001098426.2:c.355C>G MANE Select	NP_001091896.1:p.Leu119Val
NM_001330440.2:c.211C>G	NP_001317369.1:p.Leu71Val