Canonical Allele Identifier: CA2639297996

Gene: SMARCD2

Linked Data

• gnomAD v4: 17-63832128-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832128G>C , CM000679.2:g.63832128G>C	GRCh38
NC_000017.10:g.61909488G>C , CM000679.1:g.61909488G>C	GRCh37
NC_000017.9:g.59263220G>C	NCBI36
NG_053004.1:g.15864C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697953.1:n.3258C>G
ENST00000698013.1:n.3370C>G
ENST00000698014.1:n.3593C>G
ENST00000698015.1:n.2686C>G
ENST00000698016.1:c.*810C>G	ENSP00000513502.1:n.*810C>G
ENST00000698017.1:n.2760C>G
ENST00000698018.1:n.2891C>G
ENST00000698019.1:n.3089C>G
ENST00000698020.1:n.2195C>G
ENST00000698021.1:c.2104C>G
ENST00000698022.1:c.*810C>G	ENSP00000513504.1:n.*810C>G
ENST00000698023.1:n.2789C>G
ENST00000698024.1:n.2651C>G
ENST00000698025.1:n.2811C>G
ENST00000698026.1:n.1702C>G
ENST00000448276.7:c.*810C>G MANE Select	ENSP00000392617.2:n.*810C>G
ENST00000448276.6:c.*810C>G	ENSP00000392617.2:n.*810C>G
ENST00000613943.4:c.2295C>G	ENSP00000483605.1:n.2295C>G
NM_001098426.1:c.*810C>G	NP_001091896.1:n.*810C>G
XM_005257604.2:c.*810C>G	XP_005257661.2:n.*810C>G
NM_001330439.1:c.*810C>G	NP_001317368.1:n.*810C>G
NM_001330440.1:c.*810C>G	NP_001317369.1:n.*810C>G
NM_001098426.2:c.*810C>G MANE Select	NP_001091896.1:n.*810C>G
NM_001330440.2:c.*810C>G	NP_001317369.1:n.*810C>G