Canonical Allele Identifier: CA2639298291

Gene: SMARCD2

Linked Data

• gnomAD v4: 17-63832380-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832380G>A , CM000679.2:g.63832380G>A	GRCh38
NC_000017.10:g.61909740G>A , CM000679.1:g.61909740G>A	GRCh37
NC_000017.9:g.59263472G>A	NCBI36
NG_053004.1:g.15612C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2433C>T
ENST00000697953.1:n.3006C>T
ENST00000698013.1:n.3118C>T
ENST00000698014.1:n.3341C>T
ENST00000698015.1:n.2434C>T
ENST00000698016.1:c.*558C>T	ENSP00000513502.1:n.*558C>T
ENST00000698017.1:n.2508C>T
ENST00000698018.1:n.2639C>T
ENST00000698019.1:n.2837C>T
ENST00000698020.1:n.1943C>T
ENST00000698021.1:c.1852C>T
ENST00000698022.1:c.*558C>T	ENSP00000513504.1:n.*558C>T
ENST00000698023.1:n.2537C>T
ENST00000698024.1:n.2399C>T
ENST00000698025.1:n.2559C>T
ENST00000698026.1:n.1450C>T
ENST00000698027.1:c.*775C>T	ENSP00000513505.1:n.*775C>T
ENST00000698028.1:n.2642C>T
ENST00000698029.1:n.3371C>T
ENST00000448276.7:c.*558C>T MANE Select	ENSP00000392617.2:n.*558C>T
ENST00000448276.6:c.*558C>T	ENSP00000392617.2:n.*558C>T
ENST00000613943.4:c.2043C>T	ENSP00000483605.1:n.2043C>T
NM_001098426.1:c.*558C>T	NP_001091896.1:n.*558C>T
XM_005257604.2:c.*558C>T	XP_005257661.2:n.*558C>T
NM_001330439.1:c.*558C>T	NP_001317368.1:n.*558C>T
NM_001330440.1:c.*558C>T	NP_001317369.1:n.*558C>T
NM_001098426.2:c.*558C>T MANE Select	NP_001091896.1:n.*558C>T
NM_001330440.2:c.*558C>T	NP_001317369.1:n.*558C>T