Canonical Allele Identifier: CA2639298174

Gene: SMARCD2

Linked Data

• gnomAD v4: 17-63832251-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832251G>T , CM000679.2:g.63832251G>T	GRCh38
NC_000017.10:g.61909611G>T , CM000679.1:g.61909611G>T	GRCh37
NC_000017.9:g.59263343G>T	NCBI36
NG_053004.1:g.15741C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2562C>A
ENST00000697953.1:n.3135C>A
ENST00000698013.1:n.3247C>A
ENST00000698014.1:n.3470C>A
ENST00000698015.1:n.2563C>A
ENST00000698016.1:c.*687C>A	ENSP00000513502.1:n.*687C>A
ENST00000698017.1:n.2637C>A
ENST00000698018.1:n.2768C>A
ENST00000698019.1:n.2966C>A
ENST00000698020.1:n.2072C>A
ENST00000698021.1:c.1981C>A
ENST00000698022.1:c.*687C>A	ENSP00000513504.1:n.*687C>A
ENST00000698023.1:n.2666C>A
ENST00000698024.1:n.2528C>A
ENST00000698025.1:n.2688C>A
ENST00000698026.1:n.1579C>A
ENST00000698027.1:c.*904C>A	ENSP00000513505.1:n.*904C>A
ENST00000698028.1:n.2771C>A
ENST00000448276.7:c.*687C>A MANE Select	ENSP00000392617.2:n.*687C>A
ENST00000448276.6:c.*687C>A	ENSP00000392617.2:n.*687C>A
ENST00000613943.4:c.2172C>A	ENSP00000483605.1:n.2172C>A
NM_001098426.1:c.*687C>A	NP_001091896.1:n.*687C>A
XM_005257604.2:c.*687C>A	XP_005257661.2:n.*687C>A
NM_001330439.1:c.*687C>A	NP_001317368.1:n.*687C>A
NM_001330440.1:c.*687C>A	NP_001317369.1:n.*687C>A
NM_001098426.2:c.*687C>A MANE Select	NP_001091896.1:n.*687C>A
NM_001330440.2:c.*687C>A	NP_001317369.1:n.*687C>A