Canonical Allele Identifier: CA292951562

Gene: SMARCD2

Linked Data

• dbSNP Id: rs368730108
• gnomAD v4: 17-63832170-A-G
• MyVariant Identifiers: chr17:g.61909530A>G (hg19) ; chr17:g.63832170A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832170A>G , CM000679.2:g.63832170A>G	GRCh38
NC_000017.10:g.61909530A>G , CM000679.1:g.61909530A>G	GRCh37
NC_000017.9:g.59263262A>G	NCBI36
NG_053004.1:g.15822T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2643T>C
ENST00000697953.1:n.3216T>C
ENST00000698013.1:n.3328T>C
ENST00000698014.1:n.3551T>C
ENST00000698015.1:n.2644T>C
ENST00000698016.1:c.*768T>C	ENSP00000513502.1:n.*768T>C
ENST00000698017.1:n.2718T>C
ENST00000698018.1:n.2849T>C
ENST00000698019.1:n.3047T>C
ENST00000698020.1:n.2153T>C
ENST00000698021.1:c.2062T>C
ENST00000698022.1:c.*768T>C	ENSP00000513504.1:n.*768T>C
ENST00000698023.1:n.2747T>C
ENST00000698024.1:n.2609T>C
ENST00000698025.1:n.2769T>C
ENST00000698026.1:n.1660T>C
ENST00000698027.1:c.*985T>C	ENSP00000513505.1:n.*985T>C
ENST00000448276.7:c.*768T>C MANE Select	ENSP00000392617.2:n.*768T>C
ENST00000448276.6:c.*768T>C	ENSP00000392617.2:n.*768T>C
ENST00000613943.4:c.2253T>C	ENSP00000483605.1:n.2253T>C
NM_001098426.1:c.*768T>C	NP_001091896.1:n.*768T>C
XM_005257604.2:c.*768T>C	XP_005257661.2:n.*768T>C
NM_001330439.1:c.*768T>C	NP_001317368.1:n.*768T>C
NM_001330440.1:c.*768T>C	NP_001317369.1:n.*768T>C
NM_001098426.2:c.*768T>C MANE Select	NP_001091896.1:n.*768T>C
NM_001330440.2:c.*768T>C	NP_001317369.1:n.*768T>C