Canonical Allele Identifier: CA2270103200

Gene: SMARCD2

Linked Data

• dbSNP Id: rs1732298701
• gnomAD v4: 17-63832234-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832234C>T , CM000679.2:g.63832234C>T	GRCh38
NC_000017.10:g.61909594C>T , CM000679.1:g.61909594C>T	GRCh37
NC_000017.9:g.59263326C>T	NCBI36
NG_053004.1:g.15758G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2579G>A
ENST00000697953.1:n.3152G>A
ENST00000698013.1:n.3264G>A
ENST00000698014.1:n.3487G>A
ENST00000698015.1:n.2580G>A
ENST00000698016.1:c.*704G>A	ENSP00000513502.1:n.*704G>A
ENST00000698017.1:n.2654G>A
ENST00000698018.1:n.2785G>A
ENST00000698019.1:n.2983G>A
ENST00000698020.1:n.2089G>A
ENST00000698021.1:c.1998G>A
ENST00000698022.1:c.*704G>A	ENSP00000513504.1:n.*704G>A
ENST00000698023.1:n.2683G>A
ENST00000698024.1:n.2545G>A
ENST00000698025.1:n.2705G>A
ENST00000698026.1:n.1596G>A
ENST00000698027.1:c.*921G>A	ENSP00000513505.1:n.*921G>A
ENST00000698028.1:n.2788G>A
ENST00000448276.7:c.*704G>A MANE Select	ENSP00000392617.2:n.*704G>A
ENST00000448276.6:c.*704G>A	ENSP00000392617.2:n.*704G>A
ENST00000613943.4:c.2189G>A	ENSP00000483605.1:n.2189G>A
NM_001098426.1:c.*704G>A	NP_001091896.1:n.*704G>A
XM_005257604.2:c.*704G>A	XP_005257661.2:n.*704G>A
NM_001330439.1:c.*704G>A	NP_001317368.1:n.*704G>A
NM_001330440.1:c.*704G>A	NP_001317369.1:n.*704G>A
NM_001098426.2:c.*704G>A MANE Select	NP_001091896.1:n.*704G>A
NM_001330440.2:c.*704G>A	NP_001317369.1:n.*704G>A