Canonical Allele Identifier: CA773993160

Gene: SMARCD2

Linked Data

• dbSNP Id: rs1297740142
• gnomAD v3: 17-63832404-C-T
• gnomAD v4: 17-63832404-C-T
• MyVariant Identifiers: chr17:g.61909764C>T (hg19) ; chr17:g.63832404C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832404C>T , CM000679.2:g.63832404C>T	GRCh38
NC_000017.10:g.61909764C>T , CM000679.1:g.61909764C>T	GRCh37
NC_000017.9:g.59263496C>T	NCBI36
NG_053004.1:g.15588G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2409G>A
ENST00000697953.1:n.2982G>A
ENST00000698013.1:n.3094G>A
ENST00000698014.1:n.3317G>A
ENST00000698015.1:n.2410G>A
ENST00000698016.1:c.*534G>A	ENSP00000513502.1:n.*534G>A
ENST00000698017.1:n.2484G>A
ENST00000698018.1:n.2615G>A
ENST00000698019.1:n.2813G>A
ENST00000698020.1:n.1919G>A
ENST00000698021.1:c.1828G>A
ENST00000698022.1:c.*534G>A	ENSP00000513504.1:n.*534G>A
ENST00000698023.1:n.2513G>A
ENST00000698024.1:n.2375G>A
ENST00000698025.1:n.2535G>A
ENST00000698026.1:n.1426G>A
ENST00000698027.1:c.*751G>A	ENSP00000513505.1:n.*751G>A
ENST00000698028.1:n.2618G>A
ENST00000698029.1:n.3347G>A
ENST00000448276.7:c.*534G>A MANE Select	ENSP00000392617.2:n.*534G>A
ENST00000448276.6:c.*534G>A	ENSP00000392617.2:n.*534G>A
ENST00000613943.4:c.2019G>A	ENSP00000483605.1:n.2019G>A
NM_001098426.1:c.*534G>A	NP_001091896.1:n.*534G>A
XM_005257604.2:c.*534G>A	XP_005257661.2:n.*534G>A
NM_001330439.1:c.*534G>A	NP_001317368.1:n.*534G>A
NM_001330440.1:c.*534G>A	NP_001317369.1:n.*534G>A
NM_001098426.2:c.*534G>A MANE Select	NP_001091896.1:n.*534G>A
NM_001330440.2:c.*534G>A	NP_001317369.1:n.*534G>A