Canonical Allele Identifier: CA400601628

Gene: SMARCD2

Linked Data

• MyVariant Identifiers: chr17:g.61914894A>C (hg19) ; chr17:g.63837534A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63837534A>C , CM000679.2:g.63837534A>C	GRCh38
NC_000017.10:g.61914894A>C , CM000679.1:g.61914894A>C	GRCh37
NC_000017.9:g.59268626A>C	NCBI36
NG_053004.1:g.10458T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697953.1:n.196T>G
ENST00000698016.1:c.167T>G	ENSP00000513502.1:p.Leu56Arg
ENST00000698022.1:c.125T>G	ENSP00000513504.1:p.Leu42Arg
ENST00000698027.1:c.167T>G	ENSP00000513505.1:p.Leu56Arg
ENST00000448276.7:c.308T>G MANE Select	ENSP00000392617.2:p.Leu103Arg
ENST00000225742.13:c.83T>G	ENSP00000225742.9:p.Leu28Arg
ENST00000323347.14:c.164T>G	ENSP00000318451.10:p.Leu55Arg
ENST00000448276.6:c.308T>G	ENSP00000392617.2:p.Leu103Arg
ENST00000577686.1:n.53-297T>G
ENST00000580054.1:c.92T>G	ENSP00000463793.1:p.Leu31Arg
ENST00000584400.5:c.217-297T>G	ENSP00000464503.1:n.217-297T>G
ENST00000613943.4:c.197T>G	ENSP00000483605.1:p.Leu66Arg
NM_001098426.1:c.308T>G	NP_001091896.1:p.Leu103Arg
XM_005257604.2:c.83T>G	XP_005257661.2:p.Leu28Arg
NM_001330439.1:c.83T>G	NP_001317368.1:p.Leu28Arg
NM_001330440.1:c.164T>G	NP_001317369.1:p.Leu55Arg
NM_001098426.2:c.308T>G MANE Select	NP_001091896.1:p.Leu103Arg
NM_001330440.2:c.164T>G	NP_001317369.1:p.Leu55Arg