Canonical Allele Identifier: CA985416119

Gene: SMARCD2

Linked Data

• dbSNP Id: rs796896866
• gnomAD v3: 17-63832493-G-T
• gnomAD v4: 17-63832493-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832493G>T , CM000679.2:g.63832493G>T	GRCh38
NC_000017.10:g.61909853G>T , CM000679.1:g.61909853G>T	GRCh37
NC_000017.9:g.59263585G>T	NCBI36
NG_053004.1:g.15499C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2320C>A
ENST00000697953.1:n.2893C>A
ENST00000698013.1:n.3005C>A
ENST00000698014.1:n.3228C>A
ENST00000698015.1:n.2321C>A
ENST00000698016.1:c.*445C>A	ENSP00000513502.1:n.*445C>A
ENST00000698017.1:n.2395C>A
ENST00000698018.1:n.2526C>A
ENST00000698019.1:n.2724C>A
ENST00000698020.1:n.1830C>A
ENST00000698021.1:c.1739C>A
ENST00000698022.1:c.*445C>A	ENSP00000513504.1:n.*445C>A
ENST00000698023.1:n.2424C>A
ENST00000698024.1:n.2286C>A
ENST00000698025.1:n.2446C>A
ENST00000698026.1:n.1337C>A
ENST00000698027.1:c.*662C>A	ENSP00000513505.1:n.*662C>A
ENST00000698028.1:n.2529C>A
ENST00000698029.1:n.3258C>A
ENST00000448276.7:c.*445C>A MANE Select	ENSP00000392617.2:n.*445C>A
ENST00000448276.6:c.*445C>A	ENSP00000392617.2:n.*445C>A
ENST00000613943.4:c.1930C>A	ENSP00000483605.1:n.1930C>A
NM_001098426.1:c.*445C>A	NP_001091896.1:n.*445C>A
XM_005257604.2:c.*445C>A	XP_005257661.2:n.*445C>A
NM_001330439.1:c.*445C>A	NP_001317368.1:n.*445C>A
NM_001330440.1:c.*445C>A	NP_001317369.1:n.*445C>A
NM_001098426.2:c.*445C>A MANE Select	NP_001091896.1:n.*445C>A
NM_001330440.2:c.*445C>A	NP_001317369.1:n.*445C>A