Canonical Allele Identifier: CA2581319575

Gene: SMARCD2

Linked Data

• gnomAD v4: 17-63832125-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832125T>G , CM000679.2:g.63832125T>G	GRCh38
NC_000017.10:g.61909485T>G , CM000679.1:g.61909485T>G	GRCh37
NC_000017.9:g.59263217T>G	NCBI36
NG_053004.1:g.15867A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000697953.1:n.3261A>C
ENST00000698013.1:n.3373A>C
ENST00000698014.1:n.3596A>C
ENST00000698015.1:n.2689A>C
ENST00000698016.1:c.*813A>C	ENSP00000513502.1:n.*813A>C
ENST00000698017.1:n.2763A>C
ENST00000698018.1:n.2894A>C
ENST00000698019.1:n.3092A>C
ENST00000698020.1:n.2198A>C
ENST00000698021.1:c.2107A>C
ENST00000698022.1:c.*813A>C	ENSP00000513504.1:n.*813A>C
ENST00000698023.1:n.2792A>C
ENST00000698024.1:n.2654A>C
ENST00000448276.7:c.*813A>C MANE Select	ENSP00000392617.2:n.*813A>C
ENST00000448276.6:c.*813A>C	ENSP00000392617.2:n.*813A>C
ENST00000613943.4:c.2298A>C	ENSP00000483605.1:n.2298A>C
NM_001098426.1:c.*813A>C	NP_001091896.1:n.*813A>C
XM_005257604.2:c.*813A>C	XP_005257661.2:n.*813A>C
NM_001330439.1:c.*813A>C	NP_001317368.1:n.*813A>C
NM_001330440.1:c.*813A>C	NP_001317369.1:n.*813A>C
NM_001098426.2:c.*813A>C MANE Select	NP_001091896.1:n.*813A>C
NM_001330440.2:c.*813A>C	NP_001317369.1:n.*813A>C