Canonical Allele Identifier: CA2639297968

Gene: SMARCD2

Linked Data

• gnomAD v4: 17-63832105-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832105A>C , CM000679.2:g.63832105A>C	GRCh38
NC_000017.10:g.61909465A>C , CM000679.1:g.61909465A>C	GRCh37
NC_000017.9:g.59263197A>C	NCBI36
NG_053004.1:g.15887T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697953.1:n.3281T>G
ENST00000698013.1:n.3393T>G
ENST00000698014.1:n.3616T>G
ENST00000698015.1:n.2709T>G
ENST00000698016.1:c.*833T>G	ENSP00000513502.1:n.*833T>G
ENST00000698017.1:n.2783T>G
ENST00000698018.1:n.2914T>G
ENST00000698019.1:n.3112T>G
ENST00000698020.1:n.2218T>G
ENST00000698021.1:c.2127T>G
ENST00000698022.1:c.*833T>G	ENSP00000513504.1:n.*833T>G
ENST00000698023.1:n.2812T>G
ENST00000698024.1:n.2674T>G
ENST00000448276.7:c.*833T>G MANE Select	ENSP00000392617.2:n.*833T>G
ENST00000448276.6:c.*833T>G	ENSP00000392617.2:n.*833T>G
ENST00000613943.4:c.2318T>G	ENSP00000483605.1:n.2318T>G
NM_001098426.1:c.*833T>G	NP_001091896.1:n.*833T>G
XM_005257604.2:c.*833T>G	XP_005257661.2:n.*833T>G
NM_001330439.1:c.*833T>G	NP_001317368.1:n.*833T>G
NM_001330440.1:c.*833T>G	NP_001317369.1:n.*833T>G
NM_001098426.2:c.*833T>G MANE Select	NP_001091896.1:n.*833T>G
NM_001330440.2:c.*833T>G	NP_001317369.1:n.*833T>G