Canonical Allele Identifier: CA2639298373

Gene: SMARCD2

Linked Data

• gnomAD v4: 17-63832464-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832464C>A , CM000679.2:g.63832464C>A	GRCh38
NC_000017.10:g.61909824C>A , CM000679.1:g.61909824C>A	GRCh37
NC_000017.9:g.59263556C>A	NCBI36
NG_053004.1:g.15528G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2349G>T
ENST00000697953.1:n.2922G>T
ENST00000698013.1:n.3034G>T
ENST00000698014.1:n.3257G>T
ENST00000698015.1:n.2350G>T
ENST00000698016.1:c.*474G>T	ENSP00000513502.1:n.*474G>T
ENST00000698017.1:n.2424G>T
ENST00000698018.1:n.2555G>T
ENST00000698019.1:n.2753G>T
ENST00000698020.1:n.1859G>T
ENST00000698021.1:c.1768G>T
ENST00000698022.1:c.*474G>T	ENSP00000513504.1:n.*474G>T
ENST00000698023.1:n.2453G>T
ENST00000698024.1:n.2315G>T
ENST00000698025.1:n.2475G>T
ENST00000698026.1:n.1366G>T
ENST00000698027.1:c.*691G>T	ENSP00000513505.1:n.*691G>T
ENST00000698028.1:n.2558G>T
ENST00000698029.1:n.3287G>T
ENST00000448276.7:c.*474G>T MANE Select	ENSP00000392617.2:n.*474G>T
ENST00000448276.6:c.*474G>T	ENSP00000392617.2:n.*474G>T
ENST00000613943.4:c.1959G>T	ENSP00000483605.1:n.1959G>T
NM_001098426.1:c.*474G>T	NP_001091896.1:n.*474G>T
XM_005257604.2:c.*474G>T	XP_005257661.2:n.*474G>T
NM_001330439.1:c.*474G>T	NP_001317368.1:n.*474G>T
NM_001330440.1:c.*474G>T	NP_001317369.1:n.*474G>T
NM_001098426.2:c.*474G>T MANE Select	NP_001091896.1:n.*474G>T
NM_001330440.2:c.*474G>T	NP_001317369.1:n.*474G>T