Canonical Allele Identifier: CA2639298462

Gene: SMARCD2

Linked Data

• gnomAD v4: 17-63832563-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832563T>C , CM000679.2:g.63832563T>C	GRCh38
NC_000017.10:g.61909923T>C , CM000679.1:g.61909923T>C	GRCh37
NC_000017.9:g.59263655T>C	NCBI36
NG_053004.1:g.15429A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2250A>G
ENST00000697953.1:n.2823A>G
ENST00000698013.1:n.2935A>G
ENST00000698014.1:n.3158A>G
ENST00000698015.1:n.2251A>G
ENST00000698016.1:c.*375A>G	ENSP00000513502.1:n.*375A>G
ENST00000698017.1:n.2325A>G
ENST00000698018.1:n.2456A>G
ENST00000698019.1:n.2654A>G
ENST00000698020.1:n.1760A>G
ENST00000698021.1:c.1669A>G
ENST00000698022.1:c.*375A>G	ENSP00000513504.1:n.*375A>G
ENST00000698023.1:n.2354A>G
ENST00000698024.1:n.2216A>G
ENST00000698025.1:n.2376A>G
ENST00000698026.1:n.1267A>G
ENST00000698027.1:c.*592A>G	ENSP00000513505.1:n.*592A>G
ENST00000698028.1:n.2459A>G
ENST00000698029.1:n.3188A>G
ENST00000448276.7:c.*375A>G MANE Select	ENSP00000392617.2:n.*375A>G
ENST00000323347.14:c.*375A>G	ENSP00000318451.10:n.*375A>G
ENST00000448276.6:c.*375A>G	ENSP00000392617.2:n.*375A>G
ENST00000613943.4:c.1860A>G	ENSP00000483605.1:n.1860A>G
NM_001098426.1:c.*375A>G	NP_001091896.1:n.*375A>G
XM_005257604.2:c.*375A>G	XP_005257661.2:n.*375A>G
NM_001330439.1:c.*375A>G	NP_001317368.1:n.*375A>G
NM_001330440.1:c.*375A>G	NP_001317369.1:n.*375A>G
NM_001098426.2:c.*375A>G MANE Select	NP_001091896.1:n.*375A>G
NM_001330440.2:c.*375A>G	NP_001317369.1:n.*375A>G