Canonical Allele Identifier: CA292951794

Gene: SMARCD2

Linked Data

• dbSNP Id: rs1044547471
• gnomAD v3: 17-63832442-G-C
• gnomAD v4: 17-63832442-G-C
• MyVariant Identifiers: chr17:g.61909802G>C (hg19) ; chr17:g.63832442G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832442G>C , CM000679.2:g.63832442G>C	GRCh38
NC_000017.10:g.61909802G>C , CM000679.1:g.61909802G>C	GRCh37
NC_000017.9:g.59263534G>C	NCBI36
NG_053004.1:g.15550C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2371C>G
ENST00000697953.1:n.2944C>G
ENST00000698013.1:n.3056C>G
ENST00000698014.1:n.3279C>G
ENST00000698015.1:n.2372C>G
ENST00000698016.1:c.*496C>G	ENSP00000513502.1:n.*496C>G
ENST00000698017.1:n.2446C>G
ENST00000698018.1:n.2577C>G
ENST00000698019.1:n.2775C>G
ENST00000698020.1:n.1881C>G
ENST00000698021.1:c.1790C>G
ENST00000698022.1:c.*496C>G	ENSP00000513504.1:n.*496C>G
ENST00000698023.1:n.2475C>G
ENST00000698024.1:n.2337C>G
ENST00000698025.1:n.2497C>G
ENST00000698026.1:n.1388C>G
ENST00000698027.1:c.*713C>G	ENSP00000513505.1:n.*713C>G
ENST00000698028.1:n.2580C>G
ENST00000698029.1:n.3309C>G
ENST00000448276.7:c.*496C>G MANE Select	ENSP00000392617.2:n.*496C>G
ENST00000448276.6:c.*496C>G	ENSP00000392617.2:n.*496C>G
ENST00000613943.4:c.1981C>G	ENSP00000483605.1:n.1981C>G
NM_001098426.1:c.*496C>G	NP_001091896.1:n.*496C>G
XM_005257604.2:c.*496C>G	XP_005257661.2:n.*496C>G
NM_001330439.1:c.*496C>G	NP_001317368.1:n.*496C>G
NM_001330440.1:c.*496C>G	NP_001317369.1:n.*496C>G
NM_001098426.2:c.*496C>G MANE Select	NP_001091896.1:n.*496C>G
NM_001330440.2:c.*496C>G	NP_001317369.1:n.*496C>G