Canonical Allele Identifier: CA2270103064

Gene: SMARCD2

Linked Data

• dbSNP Id: rs2040203450
• gnomAD v4: 17-63832421-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832421T>C , CM000679.2:g.63832421T>C	GRCh38
NC_000017.10:g.61909781T>C , CM000679.1:g.61909781T>C	GRCh37
NC_000017.9:g.59263513T>C	NCBI36
NG_053004.1:g.15571A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2392A>G
ENST00000697953.1:n.2965A>G
ENST00000698013.1:n.3077A>G
ENST00000698014.1:n.3300A>G
ENST00000698015.1:n.2393A>G
ENST00000698016.1:c.*517A>G	ENSP00000513502.1:n.*517A>G
ENST00000698017.1:n.2467A>G
ENST00000698018.1:n.2598A>G
ENST00000698019.1:n.2796A>G
ENST00000698020.1:n.1902A>G
ENST00000698021.1:c.1811A>G
ENST00000698022.1:c.*517A>G	ENSP00000513504.1:n.*517A>G
ENST00000698023.1:n.2496A>G
ENST00000698024.1:n.2358A>G
ENST00000698025.1:n.2518A>G
ENST00000698026.1:n.1409A>G
ENST00000698027.1:c.*734A>G	ENSP00000513505.1:n.*734A>G
ENST00000698028.1:n.2601A>G
ENST00000698029.1:n.3330A>G
ENST00000448276.7:c.*517A>G MANE Select	ENSP00000392617.2:n.*517A>G
ENST00000448276.6:c.*517A>G	ENSP00000392617.2:n.*517A>G
ENST00000613943.4:c.2002A>G	ENSP00000483605.1:n.2002A>G
NM_001098426.1:c.*517A>G	NP_001091896.1:n.*517A>G
XM_005257604.2:c.*517A>G	XP_005257661.2:n.*517A>G
NM_001330439.1:c.*517A>G	NP_001317368.1:n.*517A>G
NM_001330440.1:c.*517A>G	NP_001317369.1:n.*517A>G
NM_001098426.2:c.*517A>G MANE Select	NP_001091896.1:n.*517A>G
NM_001330440.2:c.*517A>G	NP_001317369.1:n.*517A>G