Canonical Allele Identifier: CA292951766

Gene: SMARCD2

Linked Data

• dbSNP Id: rs982168847
• gnomAD v4: 17-63832410-T-C
• MyVariant Identifiers: chr17:g.61909770T>C (hg19) ; chr17:g.63832410T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832410T>C , CM000679.2:g.63832410T>C	GRCh38
NC_000017.10:g.61909770T>C , CM000679.1:g.61909770T>C	GRCh37
NC_000017.9:g.59263502T>C	NCBI36
NG_053004.1:g.15582A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2403A>G
ENST00000697953.1:n.2976A>G
ENST00000698013.1:n.3088A>G
ENST00000698014.1:n.3311A>G
ENST00000698015.1:n.2404A>G
ENST00000698016.1:c.*528A>G	ENSP00000513502.1:n.*528A>G
ENST00000698017.1:n.2478A>G
ENST00000698018.1:n.2609A>G
ENST00000698019.1:n.2807A>G
ENST00000698020.1:n.1913A>G
ENST00000698021.1:c.1822A>G
ENST00000698022.1:c.*528A>G	ENSP00000513504.1:n.*528A>G
ENST00000698023.1:n.2507A>G
ENST00000698024.1:n.2369A>G
ENST00000698025.1:n.2529A>G
ENST00000698026.1:n.1420A>G
ENST00000698027.1:c.*745A>G	ENSP00000513505.1:n.*745A>G
ENST00000698028.1:n.2612A>G
ENST00000698029.1:n.3341A>G
ENST00000448276.7:c.*528A>G MANE Select	ENSP00000392617.2:n.*528A>G
ENST00000448276.6:c.*528A>G	ENSP00000392617.2:n.*528A>G
ENST00000613943.4:c.2013A>G	ENSP00000483605.1:n.2013A>G
NM_001098426.1:c.*528A>G	NP_001091896.1:n.*528A>G
XM_005257604.2:c.*528A>G	XP_005257661.2:n.*528A>G
NM_001330439.1:c.*528A>G	NP_001317368.1:n.*528A>G
NM_001330440.1:c.*528A>G	NP_001317369.1:n.*528A>G
NM_001098426.2:c.*528A>G MANE Select	NP_001091896.1:n.*528A>G
NM_001330440.2:c.*528A>G	NP_001317369.1:n.*528A>G