Canonical Allele Identifier: CA292951819

Gene: SMARCD2

Linked Data

• dbSNP Id: rs796896866
• gnomAD v2: 17-61909853-G-C
• gnomAD v3: 17-63832493-G-C
• gnomAD v4: 17-63832493-G-C
• MyVariant Identifiers: chr17:g.61909853G>C (hg19) ; chr17:g.63832493G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832493G>C , CM000679.2:g.63832493G>C	GRCh38
NC_000017.10:g.61909853G>C , CM000679.1:g.61909853G>C	GRCh37
NC_000017.9:g.59263585G>C	NCBI36
NG_053004.1:g.15499C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2320C>G
ENST00000697953.1:n.2893C>G
ENST00000698013.1:n.3005C>G
ENST00000698014.1:n.3228C>G
ENST00000698015.1:n.2321C>G
ENST00000698016.1:c.*445C>G	ENSP00000513502.1:n.*445C>G
ENST00000698017.1:n.2395C>G
ENST00000698018.1:n.2526C>G
ENST00000698019.1:n.2724C>G
ENST00000698020.1:n.1830C>G
ENST00000698021.1:c.1739C>G
ENST00000698022.1:c.*445C>G	ENSP00000513504.1:n.*445C>G
ENST00000698023.1:n.2424C>G
ENST00000698024.1:n.2286C>G
ENST00000698025.1:n.2446C>G
ENST00000698026.1:n.1337C>G
ENST00000698027.1:c.*662C>G	ENSP00000513505.1:n.*662C>G
ENST00000698028.1:n.2529C>G
ENST00000698029.1:n.3258C>G
ENST00000448276.7:c.*445C>G MANE Select	ENSP00000392617.2:n.*445C>G
ENST00000448276.6:c.*445C>G	ENSP00000392617.2:n.*445C>G
ENST00000613943.4:c.1930C>G	ENSP00000483605.1:n.1930C>G
NM_001098426.1:c.*445C>G	NP_001091896.1:n.*445C>G
XM_005257604.2:c.*445C>G	XP_005257661.2:n.*445C>G
NM_001330439.1:c.*445C>G	NP_001317368.1:n.*445C>G
NM_001330440.1:c.*445C>G	NP_001317369.1:n.*445C>G
NM_001098426.2:c.*445C>G MANE Select	NP_001091896.1:n.*445C>G
NM_001330440.2:c.*445C>G	NP_001317369.1:n.*445C>G