Canonical Allele Identifier: CA2639298219

Gene: SMARCD2

Linked Data

• gnomAD v4: 17-63832305-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832305C>T , CM000679.2:g.63832305C>T	GRCh38
NC_000017.10:g.61909665C>T , CM000679.1:g.61909665C>T	GRCh37
NC_000017.9:g.59263397C>T	NCBI36
NG_053004.1:g.15687G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2508G>A
ENST00000697953.1:n.3081G>A
ENST00000698013.1:n.3193G>A
ENST00000698014.1:n.3416G>A
ENST00000698015.1:n.2509G>A
ENST00000698016.1:c.*633G>A	ENSP00000513502.1:n.*633G>A
ENST00000698017.1:n.2583G>A
ENST00000698018.1:n.2714G>A
ENST00000698019.1:n.2912G>A
ENST00000698020.1:n.2018G>A
ENST00000698021.1:c.1927G>A
ENST00000698022.1:c.*633G>A	ENSP00000513504.1:n.*633G>A
ENST00000698023.1:n.2612G>A
ENST00000698024.1:n.2474G>A
ENST00000698025.1:n.2634G>A
ENST00000698026.1:n.1525G>A
ENST00000698027.1:c.*850G>A	ENSP00000513505.1:n.*850G>A
ENST00000698028.1:n.2717G>A
ENST00000698029.1:n.3446G>A
ENST00000448276.7:c.*633G>A MANE Select	ENSP00000392617.2:n.*633G>A
ENST00000448276.6:c.*633G>A	ENSP00000392617.2:n.*633G>A
ENST00000613943.4:c.2118G>A	ENSP00000483605.1:n.2118G>A
NM_001098426.1:c.*633G>A	NP_001091896.1:n.*633G>A
XM_005257604.2:c.*633G>A	XP_005257661.2:n.*633G>A
NM_001330439.1:c.*633G>A	NP_001317368.1:n.*633G>A
NM_001330440.1:c.*633G>A	NP_001317369.1:n.*633G>A
NM_001098426.2:c.*633G>A MANE Select	NP_001091896.1:n.*633G>A
NM_001330440.2:c.*633G>A	NP_001317369.1:n.*633G>A