Canonical Allele Identifier: CA292951529

Gene: SMARCD2

Linked Data

• dbSNP Id: rs984778871
• gnomAD v3: 17-63832099-A-C
• gnomAD v4: 17-63832099-A-C
• MyVariant Identifiers: chr17:g.61909459A>C (hg19) ; chr17:g.63832099A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832099A>C , CM000679.2:g.63832099A>C	GRCh38
NC_000017.10:g.61909459A>C , CM000679.1:g.61909459A>C	GRCh37
NC_000017.9:g.59263191A>C	NCBI36
NG_053004.1:g.15893T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697953.1:n.3287T>G
ENST00000698013.1:n.3399T>G
ENST00000698014.1:n.3622T>G
ENST00000698015.1:n.2715T>G
ENST00000698016.1:c.*839T>G	ENSP00000513502.1:n.*839T>G
ENST00000698017.1:n.2789T>G
ENST00000698018.1:n.2920T>G
ENST00000698019.1:n.3118T>G
ENST00000698020.1:n.2224T>G
ENST00000698021.1:c.2133T>G
ENST00000698022.1:c.*839T>G	ENSP00000513504.1:n.*839T>G
ENST00000698023.1:n.2818T>G
ENST00000448276.7:c.*839T>G MANE Select	ENSP00000392617.2:n.*839T>G
ENST00000448276.6:c.*839T>G	ENSP00000392617.2:n.*839T>G
ENST00000613943.4:c.2324T>G	ENSP00000483605.1:n.2324T>G
NM_001098426.1:c.*839T>G	NP_001091896.1:n.*839T>G
XM_005257604.2:c.*839T>G	XP_005257661.2:n.*839T>G
NM_001330439.1:c.*839T>G	NP_001317368.1:n.*839T>G
NM_001330440.1:c.*839T>G	NP_001317369.1:n.*839T>G
NM_001098426.2:c.*839T>G MANE Select	NP_001091896.1:n.*839T>G
NM_001330440.2:c.*839T>G	NP_001317369.1:n.*839T>G