Canonical Allele Identifier: CA2639298067

Gene: SMARCD2

Linked Data

• dbSNP Id: rs2144622372
• gnomAD v4: 17-63832171-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832171A>C , CM000679.2:g.63832171A>C	GRCh38
NC_000017.10:g.61909531A>C , CM000679.1:g.61909531A>C	GRCh37
NC_000017.9:g.59263263A>C	NCBI36
NG_053004.1:g.15821T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2642T>G
ENST00000697953.1:n.3215T>G
ENST00000698013.1:n.3327T>G
ENST00000698014.1:n.3550T>G
ENST00000698015.1:n.2643T>G
ENST00000698016.1:c.*767T>G	ENSP00000513502.1:n.*767T>G
ENST00000698017.1:n.2717T>G
ENST00000698018.1:n.2848T>G
ENST00000698019.1:n.3046T>G
ENST00000698020.1:n.2152T>G
ENST00000698021.1:c.2061T>G
ENST00000698022.1:c.*767T>G	ENSP00000513504.1:n.*767T>G
ENST00000698023.1:n.2746T>G
ENST00000698024.1:n.2608T>G
ENST00000698025.1:n.2768T>G
ENST00000698026.1:n.1659T>G
ENST00000698027.1:c.*984T>G	ENSP00000513505.1:n.*984T>G
ENST00000448276.7:c.*767T>G MANE Select	ENSP00000392617.2:n.*767T>G
ENST00000448276.6:c.*767T>G	ENSP00000392617.2:n.*767T>G
ENST00000613943.4:c.2252T>G	ENSP00000483605.1:n.2252T>G
NM_001098426.1:c.*767T>G	NP_001091896.1:n.*767T>G
XM_005257604.2:c.*767T>G	XP_005257661.2:n.*767T>G
NM_001330439.1:c.*767T>G	NP_001317368.1:n.*767T>G
NM_001330440.1:c.*767T>G	NP_001317369.1:n.*767T>G
NM_001098426.2:c.*767T>G MANE Select	NP_001091896.1:n.*767T>G
NM_001330440.2:c.*767T>G	NP_001317369.1:n.*767T>G