Canonical Allele Identifier: CA2639298135

Gene: SMARCD2

Linked Data

• gnomAD v4: 17-63832216-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832216G>A , CM000679.2:g.63832216G>A	GRCh38
NC_000017.10:g.61909576G>A , CM000679.1:g.61909576G>A	GRCh37
NC_000017.9:g.59263308G>A	NCBI36
NG_053004.1:g.15776C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2597C>T
ENST00000697953.1:n.3170C>T
ENST00000698013.1:n.3282C>T
ENST00000698014.1:n.3505C>T
ENST00000698015.1:n.2598C>T
ENST00000698016.1:c.*722C>T	ENSP00000513502.1:n.*722C>T
ENST00000698017.1:n.2672C>T
ENST00000698018.1:n.2803C>T
ENST00000698019.1:n.3001C>T
ENST00000698020.1:n.2107C>T
ENST00000698021.1:c.2016C>T
ENST00000698022.1:c.*722C>T	ENSP00000513504.1:n.*722C>T
ENST00000698023.1:n.2701C>T
ENST00000698024.1:n.2563C>T
ENST00000698025.1:n.2723C>T
ENST00000698026.1:n.1614C>T
ENST00000698027.1:c.*939C>T	ENSP00000513505.1:n.*939C>T
ENST00000698028.1:n.2806C>T
ENST00000448276.7:c.*722C>T MANE Select	ENSP00000392617.2:n.*722C>T
ENST00000448276.6:c.*722C>T	ENSP00000392617.2:n.*722C>T
ENST00000613943.4:c.2207C>T	ENSP00000483605.1:n.2207C>T
NM_001098426.1:c.*722C>T	NP_001091896.1:n.*722C>T
XM_005257604.2:c.*722C>T	XP_005257661.2:n.*722C>T
NM_001330439.1:c.*722C>T	NP_001317368.1:n.*722C>T
NM_001330440.1:c.*722C>T	NP_001317369.1:n.*722C>T
NM_001098426.2:c.*722C>T MANE Select	NP_001091896.1:n.*722C>T
NM_001330440.2:c.*722C>T	NP_001317369.1:n.*722C>T