Canonical Allele Identifier: CA2639298445

Gene: SMARCD2

Linked Data

• gnomAD v4: 17-63832545-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832545T>G , CM000679.2:g.63832545T>G	GRCh38
NC_000017.10:g.61909905T>G , CM000679.1:g.61909905T>G	GRCh37
NC_000017.9:g.59263637T>G	NCBI36
NG_053004.1:g.15447A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2268A>C
ENST00000697953.1:n.2841A>C
ENST00000698013.1:n.2953A>C
ENST00000698014.1:n.3176A>C
ENST00000698015.1:n.2269A>C
ENST00000698016.1:c.*393A>C	ENSP00000513502.1:n.*393A>C
ENST00000698017.1:n.2343A>C
ENST00000698018.1:n.2474A>C
ENST00000698019.1:n.2672A>C
ENST00000698020.1:n.1778A>C
ENST00000698021.1:c.1687A>C
ENST00000698022.1:c.*393A>C	ENSP00000513504.1:n.*393A>C
ENST00000698023.1:n.2372A>C
ENST00000698024.1:n.2234A>C
ENST00000698025.1:n.2394A>C
ENST00000698026.1:n.1285A>C
ENST00000698027.1:c.*610A>C	ENSP00000513505.1:n.*610A>C
ENST00000698028.1:n.2477A>C
ENST00000698029.1:n.3206A>C
ENST00000448276.7:c.*393A>C MANE Select	ENSP00000392617.2:n.*393A>C
ENST00000323347.14:c.*393A>C	ENSP00000318451.10:n.*393A>C
ENST00000448276.6:c.*393A>C	ENSP00000392617.2:n.*393A>C
ENST00000613943.4:c.1878A>C	ENSP00000483605.1:n.1878A>C
NM_001098426.1:c.*393A>C	NP_001091896.1:n.*393A>C
XM_005257604.2:c.*393A>C	XP_005257661.2:n.*393A>C
NM_001330439.1:c.*393A>C	NP_001317368.1:n.*393A>C
NM_001330440.1:c.*393A>C	NP_001317369.1:n.*393A>C
NM_001098426.2:c.*393A>C MANE Select	NP_001091896.1:n.*393A>C
NM_001330440.2:c.*393A>C	NP_001317369.1:n.*393A>C