Canonical Allele Identifier: CA2639298108

Gene: SMARCD2

Linked Data

• gnomAD v4: 17-63832197-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832197C>A , CM000679.2:g.63832197C>A	GRCh38
NC_000017.10:g.61909557C>A , CM000679.1:g.61909557C>A	GRCh37
NC_000017.9:g.59263289C>A	NCBI36
NG_053004.1:g.15795G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2616G>T
ENST00000697953.1:n.3189G>T
ENST00000698013.1:n.3301G>T
ENST00000698014.1:n.3524G>T
ENST00000698015.1:n.2617G>T
ENST00000698016.1:c.*741G>T	ENSP00000513502.1:n.*741G>T
ENST00000698017.1:n.2691G>T
ENST00000698018.1:n.2822G>T
ENST00000698019.1:n.3020G>T
ENST00000698020.1:n.2126G>T
ENST00000698021.1:c.2035G>T
ENST00000698022.1:c.*741G>T	ENSP00000513504.1:n.*741G>T
ENST00000698023.1:n.2720G>T
ENST00000698024.1:n.2582G>T
ENST00000698025.1:n.2742G>T
ENST00000698026.1:n.1633G>T
ENST00000698027.1:c.*958G>T	ENSP00000513505.1:n.*958G>T
ENST00000698028.1:n.2825G>T
ENST00000448276.7:c.*741G>T MANE Select	ENSP00000392617.2:n.*741G>T
ENST00000448276.6:c.*741G>T	ENSP00000392617.2:n.*741G>T
ENST00000613943.4:c.2226G>T	ENSP00000483605.1:n.2226G>T
NM_001098426.1:c.*741G>T	NP_001091896.1:n.*741G>T
XM_005257604.2:c.*741G>T	XP_005257661.2:n.*741G>T
NM_001330439.1:c.*741G>T	NP_001317368.1:n.*741G>T
NM_001330440.1:c.*741G>T	NP_001317369.1:n.*741G>T
NM_001098426.2:c.*741G>T MANE Select	NP_001091896.1:n.*741G>T
NM_001330440.2:c.*741G>T	NP_001317369.1:n.*741G>T