Canonical Allele Identifier: CA292951777

Gene: SMARCD2

Linked Data

• dbSNP Id: rs961273430
• gnomAD v4: 17-63832440-T-C
• MyVariant Identifiers: chr17:g.61909800T>C (hg19) ; chr17:g.63832440T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832440T>C , CM000679.2:g.63832440T>C	GRCh38
NC_000017.10:g.61909800T>C , CM000679.1:g.61909800T>C	GRCh37
NC_000017.9:g.59263532T>C	NCBI36
NG_053004.1:g.15552A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2373A>G
ENST00000697953.1:n.2946A>G
ENST00000698013.1:n.3058A>G
ENST00000698014.1:n.3281A>G
ENST00000698015.1:n.2374A>G
ENST00000698016.1:c.*498A>G	ENSP00000513502.1:n.*498A>G
ENST00000698017.1:n.2448A>G
ENST00000698018.1:n.2579A>G
ENST00000698019.1:n.2777A>G
ENST00000698020.1:n.1883A>G
ENST00000698021.1:c.1792A>G
ENST00000698022.1:c.*498A>G	ENSP00000513504.1:n.*498A>G
ENST00000698023.1:n.2477A>G
ENST00000698024.1:n.2339A>G
ENST00000698025.1:n.2499A>G
ENST00000698026.1:n.1390A>G
ENST00000698027.1:c.*715A>G	ENSP00000513505.1:n.*715A>G
ENST00000698028.1:n.2582A>G
ENST00000698029.1:n.3311A>G
ENST00000448276.7:c.*498A>G MANE Select	ENSP00000392617.2:n.*498A>G
ENST00000448276.6:c.*498A>G	ENSP00000392617.2:n.*498A>G
ENST00000613943.4:c.1983A>G	ENSP00000483605.1:n.1983A>G
NM_001098426.1:c.*498A>G	NP_001091896.1:n.*498A>G
XM_005257604.2:c.*498A>G	XP_005257661.2:n.*498A>G
NM_001330439.1:c.*498A>G	NP_001317368.1:n.*498A>G
NM_001330440.1:c.*498A>G	NP_001317369.1:n.*498A>G
NM_001098426.2:c.*498A>G MANE Select	NP_001091896.1:n.*498A>G
NM_001330440.2:c.*498A>G	NP_001317369.1:n.*498A>G