Canonical Allele Identifier: CA292951673

Gene: SMARCD2

Linked Data

• dbSNP Id: rs538421618
• gnomAD v3: 17-63832292-G-A
• gnomAD v4: 17-63832292-G-A
• MyVariant Identifiers: chr17:g.61909652G>A (hg19) ; chr17:g.63832292G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832292G>A , CM000679.2:g.63832292G>A	GRCh38
NC_000017.10:g.61909652G>A , CM000679.1:g.61909652G>A	GRCh37
NC_000017.9:g.59263384G>A	NCBI36
NG_053004.1:g.15700C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2521C>T
ENST00000697953.1:n.3094C>T
ENST00000698013.1:n.3206C>T
ENST00000698014.1:n.3429C>T
ENST00000698015.1:n.2522C>T
ENST00000698016.1:c.*646C>T	ENSP00000513502.1:n.*646C>T
ENST00000698017.1:n.2596C>T
ENST00000698018.1:n.2727C>T
ENST00000698019.1:n.2925C>T
ENST00000698020.1:n.2031C>T
ENST00000698021.1:c.1940C>T
ENST00000698022.1:c.*646C>T	ENSP00000513504.1:n.*646C>T
ENST00000698023.1:n.2625C>T
ENST00000698024.1:n.2487C>T
ENST00000698025.1:n.2647C>T
ENST00000698026.1:n.1538C>T
ENST00000698027.1:c.*863C>T	ENSP00000513505.1:n.*863C>T
ENST00000698028.1:n.2730C>T
ENST00000448276.7:c.*646C>T MANE Select	ENSP00000392617.2:n.*646C>T
ENST00000448276.6:c.*646C>T	ENSP00000392617.2:n.*646C>T
ENST00000613943.4:c.2131C>T	ENSP00000483605.1:n.2131C>T
NM_001098426.1:c.*646C>T	NP_001091896.1:n.*646C>T
XM_005257604.2:c.*646C>T	XP_005257661.2:n.*646C>T
NM_001330439.1:c.*646C>T	NP_001317368.1:n.*646C>T
NM_001330440.1:c.*646C>T	NP_001317369.1:n.*646C>T
NM_001098426.2:c.*646C>T MANE Select	NP_001091896.1:n.*646C>T
NM_001330440.2:c.*646C>T	NP_001317369.1:n.*646C>T