Canonical Allele Identifier: CA985416100

Gene: SMARCD2

Linked Data

• dbSNP Id: rs2040203518
• gnomAD v3: 17-63832427-C-T
• gnomAD v4: 17-63832427-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832427C>T , CM000679.2:g.63832427C>T	GRCh38
NC_000017.10:g.61909787C>T , CM000679.1:g.61909787C>T	GRCh37
NC_000017.9:g.59263519C>T	NCBI36
NG_053004.1:g.15565G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2386G>A
ENST00000697953.1:n.2959G>A
ENST00000698013.1:n.3071G>A
ENST00000698014.1:n.3294G>A
ENST00000698015.1:n.2387G>A
ENST00000698016.1:c.*511G>A	ENSP00000513502.1:n.*511G>A
ENST00000698017.1:n.2461G>A
ENST00000698018.1:n.2592G>A
ENST00000698019.1:n.2790G>A
ENST00000698020.1:n.1896G>A
ENST00000698021.1:c.1805G>A
ENST00000698022.1:c.*511G>A	ENSP00000513504.1:n.*511G>A
ENST00000698023.1:n.2490G>A
ENST00000698024.1:n.2352G>A
ENST00000698025.1:n.2512G>A
ENST00000698026.1:n.1403G>A
ENST00000698027.1:c.*728G>A	ENSP00000513505.1:n.*728G>A
ENST00000698028.1:n.2595G>A
ENST00000698029.1:n.3324G>A
ENST00000448276.7:c.*511G>A MANE Select	ENSP00000392617.2:n.*511G>A
ENST00000448276.6:c.*511G>A	ENSP00000392617.2:n.*511G>A
ENST00000613943.4:c.1996G>A	ENSP00000483605.1:n.1996G>A
NM_001098426.1:c.*511G>A	NP_001091896.1:n.*511G>A
XM_005257604.2:c.*511G>A	XP_005257661.2:n.*511G>A
NM_001330439.1:c.*511G>A	NP_001317368.1:n.*511G>A
NM_001330440.1:c.*511G>A	NP_001317369.1:n.*511G>A
NM_001098426.2:c.*511G>A MANE Select	NP_001091896.1:n.*511G>A
NM_001330440.2:c.*511G>A	NP_001317369.1:n.*511G>A