Canonical Allele Identifier: CA292951758

Gene: SMARCD2

Linked Data

• dbSNP Id: rs970746373
• gnomAD v2: 17-61909751-A-C
• gnomAD v3: 17-63832391-A-C
• gnomAD v4: 17-63832391-A-C
• MyVariant Identifiers: chr17:g.61909751A>C (hg19) ; chr17:g.63832391A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832391A>C , CM000679.2:g.63832391A>C	GRCh38
NC_000017.10:g.61909751A>C , CM000679.1:g.61909751A>C	GRCh37
NC_000017.9:g.59263483A>C	NCBI36
NG_053004.1:g.15601T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2422T>G
ENST00000697953.1:n.2995T>G
ENST00000698013.1:n.3107T>G
ENST00000698014.1:n.3330T>G
ENST00000698015.1:n.2423T>G
ENST00000698016.1:c.*547T>G	ENSP00000513502.1:n.*547T>G
ENST00000698017.1:n.2497T>G
ENST00000698018.1:n.2628T>G
ENST00000698019.1:n.2826T>G
ENST00000698020.1:n.1932T>G
ENST00000698021.1:c.1841T>G
ENST00000698022.1:c.*547T>G	ENSP00000513504.1:n.*547T>G
ENST00000698023.1:n.2526T>G
ENST00000698024.1:n.2388T>G
ENST00000698025.1:n.2548T>G
ENST00000698026.1:n.1439T>G
ENST00000698027.1:c.*764T>G	ENSP00000513505.1:n.*764T>G
ENST00000698028.1:n.2631T>G
ENST00000698029.1:n.3360T>G
ENST00000448276.7:c.*547T>G MANE Select	ENSP00000392617.2:n.*547T>G
ENST00000448276.6:c.*547T>G	ENSP00000392617.2:n.*547T>G
ENST00000613943.4:c.2032T>G	ENSP00000483605.1:n.2032T>G
NM_001098426.1:c.*547T>G	NP_001091896.1:n.*547T>G
XM_005257604.2:c.*547T>G	XP_005257661.2:n.*547T>G
NM_001330439.1:c.*547T>G	NP_001317368.1:n.*547T>G
NM_001330440.1:c.*547T>G	NP_001317369.1:n.*547T>G
NM_001098426.2:c.*547T>G MANE Select	NP_001091896.1:n.*547T>G
NM_001330440.2:c.*547T>G	NP_001317369.1:n.*547T>G