Canonical Allele Identifier: CA2639298017

Gene: SMARCD2

Linked Data

• gnomAD v4: 17-63832138-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832138A>T , CM000679.2:g.63832138A>T	GRCh38
NC_000017.10:g.61909498A>T , CM000679.1:g.61909498A>T	GRCh37
NC_000017.9:g.59263230A>T	NCBI36
NG_053004.1:g.15854T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000697953.1:n.3248T>A
ENST00000698013.1:n.3360T>A
ENST00000698014.1:n.3583T>A
ENST00000698015.1:n.2676T>A
ENST00000698016.1:c.*800T>A	ENSP00000513502.1:n.*800T>A
ENST00000698017.1:n.2750T>A
ENST00000698018.1:n.2881T>A
ENST00000698019.1:n.3079T>A
ENST00000698020.1:n.2185T>A
ENST00000698021.1:c.2094T>A
ENST00000698022.1:c.*800T>A	ENSP00000513504.1:n.*800T>A
ENST00000698023.1:n.2779T>A
ENST00000698024.1:n.2641T>A
ENST00000698025.1:n.2801T>A
ENST00000698026.1:n.1692T>A
ENST00000698027.1:c.*1017T>A	ENSP00000513505.1:n.*1017T>A
ENST00000448276.7:c.*800T>A MANE Select	ENSP00000392617.2:n.*800T>A
ENST00000448276.6:c.*800T>A	ENSP00000392617.2:n.*800T>A
ENST00000613943.4:c.2285T>A	ENSP00000483605.1:n.2285T>A
NM_001098426.1:c.*800T>A	NP_001091896.1:n.*800T>A
XM_005257604.2:c.*800T>A	XP_005257661.2:n.*800T>A
NM_001330439.1:c.*800T>A	NP_001317368.1:n.*800T>A
NM_001330440.1:c.*800T>A	NP_001317369.1:n.*800T>A
NM_001098426.2:c.*800T>A MANE Select	NP_001091896.1:n.*800T>A
NM_001330440.2:c.*800T>A	NP_001317369.1:n.*800T>A