Canonical Allele Identifier: CA2639298234

Gene: SMARCD2

Linked Data

• gnomAD v4: 17-63832316-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832316G>T , CM000679.2:g.63832316G>T	GRCh38
NC_000017.10:g.61909676G>T , CM000679.1:g.61909676G>T	GRCh37
NC_000017.9:g.59263408G>T	NCBI36
NG_053004.1:g.15676C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2497C>A
ENST00000697953.1:n.3070C>A
ENST00000698013.1:n.3182C>A
ENST00000698014.1:n.3405C>A
ENST00000698015.1:n.2498C>A
ENST00000698016.1:c.*622C>A	ENSP00000513502.1:n.*622C>A
ENST00000698017.1:n.2572C>A
ENST00000698018.1:n.2703C>A
ENST00000698019.1:n.2901C>A
ENST00000698020.1:n.2007C>A
ENST00000698021.1:c.1916C>A
ENST00000698022.1:c.*622C>A	ENSP00000513504.1:n.*622C>A
ENST00000698023.1:n.2601C>A
ENST00000698024.1:n.2463C>A
ENST00000698025.1:n.2623C>A
ENST00000698026.1:n.1514C>A
ENST00000698027.1:c.*839C>A	ENSP00000513505.1:n.*839C>A
ENST00000698028.1:n.2706C>A
ENST00000698029.1:n.3435C>A
ENST00000448276.7:c.*622C>A MANE Select	ENSP00000392617.2:n.*622C>A
ENST00000448276.6:c.*622C>A	ENSP00000392617.2:n.*622C>A
ENST00000613943.4:c.2107C>A	ENSP00000483605.1:n.2107C>A
NM_001098426.1:c.*622C>A	NP_001091896.1:n.*622C>A
XM_005257604.2:c.*622C>A	XP_005257661.2:n.*622C>A
NM_001330439.1:c.*622C>A	NP_001317368.1:n.*622C>A
NM_001330440.1:c.*622C>A	NP_001317369.1:n.*622C>A
NM_001098426.2:c.*622C>A MANE Select	NP_001091896.1:n.*622C>A
NM_001330440.2:c.*622C>A	NP_001317369.1:n.*622C>A