Canonical Allele Identifier: CA2639298311

Gene: SMARCD2

Linked Data

• gnomAD v4: 17-63832398-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832398A>C , CM000679.2:g.63832398A>C	GRCh38
NC_000017.10:g.61909758A>C , CM000679.1:g.61909758A>C	GRCh37
NC_000017.9:g.59263490A>C	NCBI36
NG_053004.1:g.15594T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2415T>G
ENST00000697953.1:n.2988T>G
ENST00000698013.1:n.3100T>G
ENST00000698014.1:n.3323T>G
ENST00000698015.1:n.2416T>G
ENST00000698016.1:c.*540T>G	ENSP00000513502.1:n.*540T>G
ENST00000698017.1:n.2490T>G
ENST00000698018.1:n.2621T>G
ENST00000698019.1:n.2819T>G
ENST00000698020.1:n.1925T>G
ENST00000698021.1:c.1834T>G
ENST00000698022.1:c.*540T>G	ENSP00000513504.1:n.*540T>G
ENST00000698023.1:n.2519T>G
ENST00000698024.1:n.2381T>G
ENST00000698025.1:n.2541T>G
ENST00000698026.1:n.1432T>G
ENST00000698027.1:c.*757T>G	ENSP00000513505.1:n.*757T>G
ENST00000698028.1:n.2624T>G
ENST00000698029.1:n.3353T>G
ENST00000448276.7:c.*540T>G MANE Select	ENSP00000392617.2:n.*540T>G
ENST00000448276.6:c.*540T>G	ENSP00000392617.2:n.*540T>G
ENST00000613943.4:c.2025T>G	ENSP00000483605.1:n.2025T>G
NM_001098426.1:c.*540T>G	NP_001091896.1:n.*540T>G
XM_005257604.2:c.*540T>G	XP_005257661.2:n.*540T>G
NM_001330439.1:c.*540T>G	NP_001317368.1:n.*540T>G
NM_001330440.1:c.*540T>G	NP_001317369.1:n.*540T>G
NM_001098426.2:c.*540T>G MANE Select	NP_001091896.1:n.*540T>G
NM_001330440.2:c.*540T>G	NP_001317369.1:n.*540T>G