Canonical Allele Identifier: CA2639298446

Gene: SMARCD2

Linked Data

• gnomAD v4: 17-63832546-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832546C>A , CM000679.2:g.63832546C>A	GRCh38
NC_000017.10:g.61909906C>A , CM000679.1:g.61909906C>A	GRCh37
NC_000017.9:g.59263638C>A	NCBI36
NG_053004.1:g.15446G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2267G>T
ENST00000697953.1:n.2840G>T
ENST00000698013.1:n.2952G>T
ENST00000698014.1:n.3175G>T
ENST00000698015.1:n.2268G>T
ENST00000698016.1:c.*392G>T	ENSP00000513502.1:n.*392G>T
ENST00000698017.1:n.2342G>T
ENST00000698018.1:n.2473G>T
ENST00000698019.1:n.2671G>T
ENST00000698020.1:n.1777G>T
ENST00000698021.1:c.1686G>T
ENST00000698022.1:c.*392G>T	ENSP00000513504.1:n.*392G>T
ENST00000698023.1:n.2371G>T
ENST00000698024.1:n.2233G>T
ENST00000698025.1:n.2393G>T
ENST00000698026.1:n.1284G>T
ENST00000698027.1:c.*609G>T	ENSP00000513505.1:n.*609G>T
ENST00000698028.1:n.2476G>T
ENST00000698029.1:n.3205G>T
ENST00000448276.7:c.*392G>T MANE Select	ENSP00000392617.2:n.*392G>T
ENST00000323347.14:c.*392G>T	ENSP00000318451.10:n.*392G>T
ENST00000448276.6:c.*392G>T	ENSP00000392617.2:n.*392G>T
ENST00000613943.4:c.1877G>T	ENSP00000483605.1:n.1877G>T
NM_001098426.1:c.*392G>T	NP_001091896.1:n.*392G>T
XM_005257604.2:c.*392G>T	XP_005257661.2:n.*392G>T
NM_001330439.1:c.*392G>T	NP_001317368.1:n.*392G>T
NM_001330440.1:c.*392G>T	NP_001317369.1:n.*392G>T
NM_001098426.2:c.*392G>T MANE Select	NP_001091896.1:n.*392G>T
NM_001330440.2:c.*392G>T	NP_001317369.1:n.*392G>T