Canonical Allele Identifier: CA292951553

Gene: SMARCD2

Linked Data

• dbSNP Id: rs758343552
• gnomAD v4: 17-63832139-A-G
• MyVariant Identifiers: chr17:g.61909499A>G (hg19) ; chr17:g.63832139A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832139A>G , CM000679.2:g.63832139A>G	GRCh38
NC_000017.10:g.61909499A>G , CM000679.1:g.61909499A>G	GRCh37
NC_000017.9:g.59263231A>G	NCBI36
NG_053004.1:g.15853T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000697953.1:n.3247T>C
ENST00000698013.1:n.3359T>C
ENST00000698014.1:n.3582T>C
ENST00000698015.1:n.2675T>C
ENST00000698016.1:c.*799T>C	ENSP00000513502.1:n.*799T>C
ENST00000698017.1:n.2749T>C
ENST00000698018.1:n.2880T>C
ENST00000698019.1:n.3078T>C
ENST00000698020.1:n.2184T>C
ENST00000698021.1:c.2093T>C
ENST00000698022.1:c.*799T>C	ENSP00000513504.1:n.*799T>C
ENST00000698023.1:n.2778T>C
ENST00000698024.1:n.2640T>C
ENST00000698025.1:n.2800T>C
ENST00000698026.1:n.1691T>C
ENST00000698027.1:c.*1016T>C	ENSP00000513505.1:n.*1016T>C
ENST00000448276.7:c.*799T>C MANE Select	ENSP00000392617.2:n.*799T>C
ENST00000448276.6:c.*799T>C	ENSP00000392617.2:n.*799T>C
ENST00000613943.4:c.2284T>C	ENSP00000483605.1:n.2284T>C
NM_001098426.1:c.*799T>C	NP_001091896.1:n.*799T>C
XM_005257604.2:c.*799T>C	XP_005257661.2:n.*799T>C
NM_001330439.1:c.*799T>C	NP_001317368.1:n.*799T>C
NM_001330440.1:c.*799T>C	NP_001317369.1:n.*799T>C
NM_001098426.2:c.*799T>C MANE Select	NP_001091896.1:n.*799T>C
NM_001330440.2:c.*799T>C	NP_001317369.1:n.*799T>C