Canonical Allele Identifier: CA2639298388

Gene: SMARCD2

Linked Data

• gnomAD v4: 17-63832475-GAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832480_63832481del , CM000679.2:g.63832480_63832481del	GRCh38
NC_000017.10:g.61909840_61909841del , CM000679.1:g.61909840_61909841del	GRCh37
NC_000017.9:g.59263572_59263573del	NCBI36
NG_053004.1:g.15515_15516del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2336_2337del
ENST00000697953.1:n.2909_2910del
ENST00000698013.1:n.3021_3022del
ENST00000698014.1:n.3244_3245del
ENST00000698015.1:n.2337_2338del
ENST00000698016.1:c.*461_*462del	ENSP00000513502.1:n.*461_*462del
ENST00000698017.1:n.2411_2412del
ENST00000698018.1:n.2542_2543del
ENST00000698019.1:n.2740_2741del
ENST00000698020.1:n.1846_1847del
ENST00000698021.1:c.1755_1756del
ENST00000698022.1:c.*461_*462del	ENSP00000513504.1:n.*461_*462del
ENST00000698023.1:n.2440_2441del
ENST00000698024.1:n.2302_2303del
ENST00000698025.1:n.2462_2463del
ENST00000698026.1:n.1353_1354del
ENST00000698027.1:c.*678_*679del	ENSP00000513505.1:n.*678_*679del
ENST00000698028.1:n.2545_2546del
ENST00000698029.1:n.3274_3275del
ENST00000448276.7:c.*461_*462del MANE Select	ENSP00000392617.2:n.*461_*462del
ENST00000448276.6:c.*461_*462del	ENSP00000392617.2:n.*461_*462del
ENST00000613943.4:c.1946_1947del	ENSP00000483605.1:n.1946_1947del
NM_001098426.1:c.*461_*462del	NP_001091896.1:n.*461_*462del
XM_005257604.2:c.*461_*462del	XP_005257661.2:n.*461_*462del
NM_001330439.1:c.*461_*462del	NP_001317368.1:n.*461_*462del
NM_001330440.1:c.*461_*462del	NP_001317369.1:n.*461_*462del
NM_001098426.2:c.*461_*462del MANE Select	NP_001091896.1:n.*461_*462del
NM_001330440.2:c.*461_*462del	NP_001317369.1:n.*461_*462del