Canonical Allele Identifier: CA400601580

Gene: SMARCD2

Linked Data

• ClinVar Variation Id: 1375197
• ClinVar RCV Id: RCV001883288
• dbSNP Id: rs2144634534
• MyVariant Identifiers: chr17:g.61914868T>C (hg19) ; chr17:g.63837508T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63837508T>C , CM000679.2:g.63837508T>C	GRCh38
NC_000017.10:g.61914868T>C , CM000679.1:g.61914868T>C	GRCh37
NC_000017.9:g.59268600T>C	NCBI36
NG_053004.1:g.10484A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697953.1:n.222A>G
ENST00000698016.1:c.193A>G	ENSP00000513502.1:p.Met65Val
ENST00000698022.1:c.151A>G	ENSP00000513504.1:p.Met51Val
ENST00000698027.1:c.193A>G	ENSP00000513505.1:p.Met65Val
ENST00000448276.7:c.334A>G MANE Select	ENSP00000392617.2:p.Met112Val
ENST00000225742.13:c.109A>G	ENSP00000225742.9:p.Met37Val
ENST00000323347.14:c.190A>G	ENSP00000318451.10:p.Met64Val
ENST00000448276.6:c.334A>G	ENSP00000392617.2:p.Met112Val
ENST00000577686.1:n.53-271A>G
ENST00000580054.1:c.118A>G	ENSP00000463793.1:p.Met40Val
ENST00000584400.5:c.217-271A>G	ENSP00000464503.1:n.217-271A>G
ENST00000613943.4:c.223A>G	ENSP00000483605.1:p.Met75Val
NM_001098426.1:c.334A>G	NP_001091896.1:p.Met112Val
XM_005257604.2:c.109A>G	XP_005257661.2:p.Met37Val
NM_001330439.1:c.109A>G	NP_001317368.1:p.Met37Val
NM_001330440.1:c.190A>G	NP_001317369.1:p.Met64Val
NM_001098426.2:c.334A>G MANE Select	NP_001091896.1:p.Met112Val
NM_001330440.2:c.190A>G	NP_001317369.1:p.Met64Val