Canonical Allele Identifier: CA2639298027

Gene: SMARCD2

Linked Data

• gnomAD v4: 17-63832145-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832145A>T , CM000679.2:g.63832145A>T	GRCh38
NC_000017.10:g.61909505A>T , CM000679.1:g.61909505A>T	GRCh37
NC_000017.9:g.59263237A>T	NCBI36
NG_053004.1:g.15847T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2668T>A
ENST00000697953.1:n.3241T>A
ENST00000698013.1:n.3353T>A
ENST00000698014.1:n.3576T>A
ENST00000698015.1:n.2669T>A
ENST00000698016.1:c.*793T>A	ENSP00000513502.1:n.*793T>A
ENST00000698017.1:n.2743T>A
ENST00000698018.1:n.2874T>A
ENST00000698019.1:n.3072T>A
ENST00000698020.1:n.2178T>A
ENST00000698021.1:c.2087T>A
ENST00000698022.1:c.*793T>A	ENSP00000513504.1:n.*793T>A
ENST00000698023.1:n.2772T>A
ENST00000698024.1:n.2634T>A
ENST00000698025.1:n.2794T>A
ENST00000698026.1:n.1685T>A
ENST00000698027.1:c.*1010T>A	ENSP00000513505.1:n.*1010T>A
ENST00000448276.7:c.*793T>A MANE Select	ENSP00000392617.2:n.*793T>A
ENST00000448276.6:c.*793T>A	ENSP00000392617.2:n.*793T>A
ENST00000613943.4:c.2278T>A	ENSP00000483605.1:n.2278T>A
NM_001098426.1:c.*793T>A	NP_001091896.1:n.*793T>A
XM_005257604.2:c.*793T>A	XP_005257661.2:n.*793T>A
NM_001330439.1:c.*793T>A	NP_001317368.1:n.*793T>A
NM_001330440.1:c.*793T>A	NP_001317369.1:n.*793T>A
NM_001098426.2:c.*793T>A MANE Select	NP_001091896.1:n.*793T>A
NM_001330440.2:c.*793T>A	NP_001317369.1:n.*793T>A