Canonical Allele Identifier: CA2639298070

Gene: SMARCD2

Linked Data

• gnomAD v4: 17-63832173-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832173G>C , CM000679.2:g.63832173G>C	GRCh38
NC_000017.10:g.61909533G>C , CM000679.1:g.61909533G>C	GRCh37
NC_000017.9:g.59263265G>C	NCBI36
NG_053004.1:g.15819C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2640C>G
ENST00000697953.1:n.3213C>G
ENST00000698013.1:n.3325C>G
ENST00000698014.1:n.3548C>G
ENST00000698015.1:n.2641C>G
ENST00000698016.1:c.*765C>G	ENSP00000513502.1:n.*765C>G
ENST00000698017.1:n.2715C>G
ENST00000698018.1:n.2846C>G
ENST00000698019.1:n.3044C>G
ENST00000698020.1:n.2150C>G
ENST00000698021.1:c.2059C>G
ENST00000698022.1:c.*765C>G	ENSP00000513504.1:n.*765C>G
ENST00000698023.1:n.2744C>G
ENST00000698024.1:n.2606C>G
ENST00000698025.1:n.2766C>G
ENST00000698026.1:n.1657C>G
ENST00000698027.1:c.*982C>G	ENSP00000513505.1:n.*982C>G
ENST00000448276.7:c.*765C>G MANE Select	ENSP00000392617.2:n.*765C>G
ENST00000448276.6:c.*765C>G	ENSP00000392617.2:n.*765C>G
ENST00000613943.4:c.2250C>G	ENSP00000483605.1:n.2250C>G
NM_001098426.1:c.*765C>G	NP_001091896.1:n.*765C>G
XM_005257604.2:c.*765C>G	XP_005257661.2:n.*765C>G
NM_001330439.1:c.*765C>G	NP_001317368.1:n.*765C>G
NM_001330440.1:c.*765C>G	NP_001317369.1:n.*765C>G
NM_001098426.2:c.*765C>G MANE Select	NP_001091896.1:n.*765C>G
NM_001330440.2:c.*765C>G	NP_001317369.1:n.*765C>G