Canonical Allele Identifier: CA773993240

Gene: SMARCD2

Linked Data

• dbSNP Id: rs1334980463
• gnomAD v3: 17-63832539-G-A
• gnomAD v4: 17-63832539-G-A
• MyVariant Identifiers: chr17:g.61909899G>A (hg19) ; chr17:g.63832539G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832539G>A , CM000679.2:g.63832539G>A	GRCh38
NC_000017.10:g.61909899G>A , CM000679.1:g.61909899G>A	GRCh37
NC_000017.9:g.59263631G>A	NCBI36
NG_053004.1:g.15453C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2274C>T
ENST00000697953.1:n.2847C>T
ENST00000698013.1:n.2959C>T
ENST00000698014.1:n.3182C>T
ENST00000698015.1:n.2275C>T
ENST00000698016.1:c.*399C>T	ENSP00000513502.1:n.*399C>T
ENST00000698017.1:n.2349C>T
ENST00000698018.1:n.2480C>T
ENST00000698019.1:n.2678C>T
ENST00000698020.1:n.1784C>T
ENST00000698021.1:c.1693C>T
ENST00000698022.1:c.*399C>T	ENSP00000513504.1:n.*399C>T
ENST00000698023.1:n.2378C>T
ENST00000698024.1:n.2240C>T
ENST00000698025.1:n.2400C>T
ENST00000698026.1:n.1291C>T
ENST00000698027.1:c.*616C>T	ENSP00000513505.1:n.*616C>T
ENST00000698028.1:n.2483C>T
ENST00000698029.1:n.3212C>T
ENST00000448276.7:c.*399C>T MANE Select	ENSP00000392617.2:n.*399C>T
ENST00000323347.14:c.*399C>T	ENSP00000318451.10:n.*399C>T
ENST00000448276.6:c.*399C>T	ENSP00000392617.2:n.*399C>T
ENST00000613943.4:c.1884C>T	ENSP00000483605.1:n.1884C>T
NM_001098426.1:c.*399C>T	NP_001091896.1:n.*399C>T
XM_005257604.2:c.*399C>T	XP_005257661.2:n.*399C>T
NM_001330439.1:c.*399C>T	NP_001317368.1:n.*399C>T
NM_001330440.1:c.*399C>T	NP_001317369.1:n.*399C>T
NM_001098426.2:c.*399C>T MANE Select	NP_001091896.1:n.*399C>T
NM_001330440.2:c.*399C>T	NP_001317369.1:n.*399C>T