Canonical Allele Identifier: CA2270103219

Gene: SMARCD2

Linked Data

• dbSNP Id: rs2040200422
• gnomAD v4: 17-63832246-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832246G>T , CM000679.2:g.63832246G>T	GRCh38
NC_000017.10:g.61909606G>T , CM000679.1:g.61909606G>T	GRCh37
NC_000017.9:g.59263338G>T	NCBI36
NG_053004.1:g.15746C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2567C>A
ENST00000697953.1:n.3140C>A
ENST00000698013.1:n.3252C>A
ENST00000698014.1:n.3475C>A
ENST00000698015.1:n.2568C>A
ENST00000698016.1:c.*692C>A	ENSP00000513502.1:n.*692C>A
ENST00000698017.1:n.2642C>A
ENST00000698018.1:n.2773C>A
ENST00000698019.1:n.2971C>A
ENST00000698020.1:n.2077C>A
ENST00000698021.1:c.1986C>A
ENST00000698022.1:c.*692C>A	ENSP00000513504.1:n.*692C>A
ENST00000698023.1:n.2671C>A
ENST00000698024.1:n.2533C>A
ENST00000698025.1:n.2693C>A
ENST00000698026.1:n.1584C>A
ENST00000698027.1:c.*909C>A	ENSP00000513505.1:n.*909C>A
ENST00000698028.1:n.2776C>A
ENST00000448276.7:c.*692C>A MANE Select	ENSP00000392617.2:n.*692C>A
ENST00000448276.6:c.*692C>A	ENSP00000392617.2:n.*692C>A
ENST00000613943.4:c.2177C>A	ENSP00000483605.1:n.2177C>A
NM_001098426.1:c.*692C>A	NP_001091896.1:n.*692C>A
XM_005257604.2:c.*692C>A	XP_005257661.2:n.*692C>A
NM_001330439.1:c.*692C>A	NP_001317368.1:n.*692C>A
NM_001330440.1:c.*692C>A	NP_001317369.1:n.*692C>A
NM_001098426.2:c.*692C>A MANE Select	NP_001091896.1:n.*692C>A
NM_001330440.2:c.*692C>A	NP_001317369.1:n.*692C>A