Canonical Allele Identifier: CA2639298449

Gene: SMARCD2

Linked Data

• gnomAD v4: 17-63832550-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832550G>T , CM000679.2:g.63832550G>T	GRCh38
NC_000017.10:g.61909910G>T , CM000679.1:g.61909910G>T	GRCh37
NC_000017.9:g.59263642G>T	NCBI36
NG_053004.1:g.15442C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2263C>A
ENST00000697953.1:n.2836C>A
ENST00000698013.1:n.2948C>A
ENST00000698014.1:n.3171C>A
ENST00000698015.1:n.2264C>A
ENST00000698016.1:c.*388C>A	ENSP00000513502.1:n.*388C>A
ENST00000698017.1:n.2338C>A
ENST00000698018.1:n.2469C>A
ENST00000698019.1:n.2667C>A
ENST00000698020.1:n.1773C>A
ENST00000698021.1:c.1682C>A
ENST00000698022.1:c.*388C>A	ENSP00000513504.1:n.*388C>A
ENST00000698023.1:n.2367C>A
ENST00000698024.1:n.2229C>A
ENST00000698025.1:n.2389C>A
ENST00000698026.1:n.1280C>A
ENST00000698027.1:c.*605C>A	ENSP00000513505.1:n.*605C>A
ENST00000698028.1:n.2472C>A
ENST00000698029.1:n.3201C>A
ENST00000448276.7:c.*388C>A MANE Select	ENSP00000392617.2:n.*388C>A
ENST00000323347.14:c.*388C>A	ENSP00000318451.10:n.*388C>A
ENST00000448276.6:c.*388C>A	ENSP00000392617.2:n.*388C>A
ENST00000613943.4:c.1873C>A	ENSP00000483605.1:n.1873C>A
NM_001098426.1:c.*388C>A	NP_001091896.1:n.*388C>A
XM_005257604.2:c.*388C>A	XP_005257661.2:n.*388C>A
NM_001330439.1:c.*388C>A	NP_001317368.1:n.*388C>A
NM_001330440.1:c.*388C>A	NP_001317369.1:n.*388C>A
NM_001098426.2:c.*388C>A MANE Select	NP_001091896.1:n.*388C>A
NM_001330440.2:c.*388C>A	NP_001317369.1:n.*388C>A