Canonical Allele Identifier: CA2639298249

Gene: SMARCD2

Linked Data

• gnomAD v4: 17-63832335-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832335G>T , CM000679.2:g.63832335G>T	GRCh38
NC_000017.10:g.61909695G>T , CM000679.1:g.61909695G>T	GRCh37
NC_000017.9:g.59263427G>T	NCBI36
NG_053004.1:g.15657C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2478C>A
ENST00000697953.1:n.3051C>A
ENST00000698013.1:n.3163C>A
ENST00000698014.1:n.3386C>A
ENST00000698015.1:n.2479C>A
ENST00000698016.1:c.*603C>A	ENSP00000513502.1:n.*603C>A
ENST00000698017.1:n.2553C>A
ENST00000698018.1:n.2684C>A
ENST00000698019.1:n.2882C>A
ENST00000698020.1:n.1988C>A
ENST00000698021.1:c.1897C>A
ENST00000698022.1:c.*603C>A	ENSP00000513504.1:n.*603C>A
ENST00000698023.1:n.2582C>A
ENST00000698024.1:n.2444C>A
ENST00000698025.1:n.2604C>A
ENST00000698026.1:n.1495C>A
ENST00000698027.1:c.*820C>A	ENSP00000513505.1:n.*820C>A
ENST00000698028.1:n.2687C>A
ENST00000698029.1:n.3416C>A
ENST00000448276.7:c.*603C>A MANE Select	ENSP00000392617.2:n.*603C>A
ENST00000448276.6:c.*603C>A	ENSP00000392617.2:n.*603C>A
ENST00000613943.4:c.2088C>A	ENSP00000483605.1:n.2088C>A
NM_001098426.1:c.*603C>A	NP_001091896.1:n.*603C>A
XM_005257604.2:c.*603C>A	XP_005257661.2:n.*603C>A
NM_001330439.1:c.*603C>A	NP_001317368.1:n.*603C>A
NM_001330440.1:c.*603C>A	NP_001317369.1:n.*603C>A
NM_001098426.2:c.*603C>A MANE Select	NP_001091896.1:n.*603C>A
NM_001330440.2:c.*603C>A	NP_001317369.1:n.*603C>A