Canonical Allele Identifier: CA292951844

Gene: SMARCD2

Linked Data

• dbSNP Id: rs910899611
• gnomAD v3: 17-63832548-G-A
• gnomAD v4: 17-63832548-G-A
• MyVariant Identifiers: chr17:g.61909908G>A (hg19) ; chr17:g.63832548G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832548G>A , CM000679.2:g.63832548G>A	GRCh38
NC_000017.10:g.61909908G>A , CM000679.1:g.61909908G>A	GRCh37
NC_000017.9:g.59263640G>A	NCBI36
NG_053004.1:g.15444C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2265C>T
ENST00000697953.1:n.2838C>T
ENST00000698013.1:n.2950C>T
ENST00000698014.1:n.3173C>T
ENST00000698015.1:n.2266C>T
ENST00000698016.1:c.*390C>T	ENSP00000513502.1:n.*390C>T
ENST00000698017.1:n.2340C>T
ENST00000698018.1:n.2471C>T
ENST00000698019.1:n.2669C>T
ENST00000698020.1:n.1775C>T
ENST00000698021.1:c.1684C>T
ENST00000698022.1:c.*390C>T	ENSP00000513504.1:n.*390C>T
ENST00000698023.1:n.2369C>T
ENST00000698024.1:n.2231C>T
ENST00000698025.1:n.2391C>T
ENST00000698026.1:n.1282C>T
ENST00000698027.1:c.*607C>T	ENSP00000513505.1:n.*607C>T
ENST00000698028.1:n.2474C>T
ENST00000698029.1:n.3203C>T
ENST00000448276.7:c.*390C>T MANE Select	ENSP00000392617.2:n.*390C>T
ENST00000323347.14:c.*390C>T	ENSP00000318451.10:n.*390C>T
ENST00000448276.6:c.*390C>T	ENSP00000392617.2:n.*390C>T
ENST00000613943.4:c.1875C>T	ENSP00000483605.1:n.1875C>T
NM_001098426.1:c.*390C>T	NP_001091896.1:n.*390C>T
XM_005257604.2:c.*390C>T	XP_005257661.2:n.*390C>T
NM_001330439.1:c.*390C>T	NP_001317368.1:n.*390C>T
NM_001330440.1:c.*390C>T	NP_001317369.1:n.*390C>T
NM_001098426.2:c.*390C>T MANE Select	NP_001091896.1:n.*390C>T
NM_001330440.2:c.*390C>T	NP_001317369.1:n.*390C>T