Canonical Allele Identifier: CA2639298116

Gene: SMARCD2

Linked Data

• gnomAD v4: 17-63832203-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832203T>G , CM000679.2:g.63832203T>G	GRCh38
NC_000017.10:g.61909563T>G , CM000679.1:g.61909563T>G	GRCh37
NC_000017.9:g.59263295T>G	NCBI36
NG_053004.1:g.15789A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2610A>C
ENST00000697953.1:n.3183A>C
ENST00000698013.1:n.3295A>C
ENST00000698014.1:n.3518A>C
ENST00000698015.1:n.2611A>C
ENST00000698016.1:c.*735A>C	ENSP00000513502.1:n.*735A>C
ENST00000698017.1:n.2685A>C
ENST00000698018.1:n.2816A>C
ENST00000698019.1:n.3014A>C
ENST00000698020.1:n.2120A>C
ENST00000698021.1:c.2029A>C
ENST00000698022.1:c.*735A>C	ENSP00000513504.1:n.*735A>C
ENST00000698023.1:n.2714A>C
ENST00000698024.1:n.2576A>C
ENST00000698025.1:n.2736A>C
ENST00000698026.1:n.1627A>C
ENST00000698027.1:c.*952A>C	ENSP00000513505.1:n.*952A>C
ENST00000698028.1:n.2819A>C
ENST00000448276.7:c.*735A>C MANE Select	ENSP00000392617.2:n.*735A>C
ENST00000448276.6:c.*735A>C	ENSP00000392617.2:n.*735A>C
ENST00000613943.4:c.2220A>C	ENSP00000483605.1:n.2220A>C
NM_001098426.1:c.*735A>C	NP_001091896.1:n.*735A>C
XM_005257604.2:c.*735A>C	XP_005257661.2:n.*735A>C
NM_001330439.1:c.*735A>C	NP_001317368.1:n.*735A>C
NM_001330440.1:c.*735A>C	NP_001317369.1:n.*735A>C
NM_001098426.2:c.*735A>C MANE Select	NP_001091896.1:n.*735A>C
NM_001330440.2:c.*735A>C	NP_001317369.1:n.*735A>C