Canonical Allele Identifier: CA292951544

Gene: SMARCD2

Linked Data

• dbSNP Id: rs943226461
• gnomAD v3: 17-63832129-G-T
• gnomAD v4: 17-63832129-G-T
• MyVariant Identifiers: chr17:g.61909489G>T (hg19) ; chr17:g.63832129G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832129G>T , CM000679.2:g.63832129G>T	GRCh38
NC_000017.10:g.61909489G>T , CM000679.1:g.61909489G>T	GRCh37
NC_000017.9:g.59263221G>T	NCBI36
NG_053004.1:g.15863C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697953.1:n.3257C>A
ENST00000698013.1:n.3369C>A
ENST00000698014.1:n.3592C>A
ENST00000698015.1:n.2685C>A
ENST00000698016.1:c.*809C>A	ENSP00000513502.1:n.*809C>A
ENST00000698017.1:n.2759C>A
ENST00000698018.1:n.2890C>A
ENST00000698019.1:n.3088C>A
ENST00000698020.1:n.2194C>A
ENST00000698021.1:c.2103C>A
ENST00000698022.1:c.*809C>A	ENSP00000513504.1:n.*809C>A
ENST00000698023.1:n.2788C>A
ENST00000698024.1:n.2650C>A
ENST00000698025.1:n.2810C>A
ENST00000698026.1:n.1701C>A
ENST00000448276.7:c.*809C>A MANE Select	ENSP00000392617.2:n.*809C>A
ENST00000448276.6:c.*809C>A	ENSP00000392617.2:n.*809C>A
ENST00000613943.4:c.2294C>A	ENSP00000483605.1:n.2294C>A
NM_001098426.1:c.*809C>A	NP_001091896.1:n.*809C>A
XM_005257604.2:c.*809C>A	XP_005257661.2:n.*809C>A
NM_001330439.1:c.*809C>A	NP_001317368.1:n.*809C>A
NM_001330440.1:c.*809C>A	NP_001317369.1:n.*809C>A
NM_001098426.2:c.*809C>A MANE Select	NP_001091896.1:n.*809C>A
NM_001330440.2:c.*809C>A	NP_001317369.1:n.*809C>A