Canonical Allele Identifier: CA400601529

Gene: SMARCD2

Linked Data

• MyVariant Identifiers: chr17:g.61914844G>T (hg19) ; chr17:g.63837484G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63837484G>T , CM000679.2:g.63837484G>T	GRCh38
NC_000017.10:g.61914844G>T , CM000679.1:g.61914844G>T	GRCh37
NC_000017.9:g.59268576G>T	NCBI36
NG_053004.1:g.10508C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697953.1:n.246C>A
ENST00000698016.1:c.217C>A	ENSP00000513502.1:p.Leu73Ile
ENST00000698021.1:c.21C>A
ENST00000698022.1:c.175C>A	ENSP00000513504.1:p.Leu59Ile
ENST00000698027.1:c.217C>A	ENSP00000513505.1:p.Leu73Ile
ENST00000448276.7:c.358C>A MANE Select	ENSP00000392617.2:p.Leu120Ile
ENST00000225742.13:c.133C>A	ENSP00000225742.9:p.Leu45Ile
ENST00000323347.14:c.214C>A	ENSP00000318451.10:p.Leu72Ile
ENST00000448276.6:c.358C>A	ENSP00000392617.2:p.Leu120Ile
ENST00000577686.1:n.53-247C>A
ENST00000580054.1:c.142C>A	ENSP00000463793.1:p.Leu48Ile
ENST00000584400.5:c.217-247C>A	ENSP00000464503.1:n.217-247C>A
ENST00000613943.4:c.247C>A	ENSP00000483605.1:p.Leu83Ile
NM_001098426.1:c.358C>A	NP_001091896.1:p.Leu120Ile
XM_005257604.2:c.133C>A	XP_005257661.2:p.Leu45Ile
NM_001330439.1:c.133C>A	NP_001317368.1:p.Leu45Ile
NM_001330440.1:c.214C>A	NP_001317369.1:p.Leu72Ile
NM_001098426.2:c.358C>A MANE Select	NP_001091896.1:p.Leu120Ile
NM_001330440.2:c.214C>A	NP_001317369.1:p.Leu72Ile