Canonical Allele Identifier: CA2639298455

Gene: SMARCD2

Linked Data

• gnomAD v4: 17-63832556-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832556C>A , CM000679.2:g.63832556C>A	GRCh38
NC_000017.10:g.61909916C>A , CM000679.1:g.61909916C>A	GRCh37
NC_000017.9:g.59263648C>A	NCBI36
NG_053004.1:g.15436G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2257G>T
ENST00000697953.1:n.2830G>T
ENST00000698013.1:n.2942G>T
ENST00000698014.1:n.3165G>T
ENST00000698015.1:n.2258G>T
ENST00000698016.1:c.*382G>T	ENSP00000513502.1:n.*382G>T
ENST00000698017.1:n.2332G>T
ENST00000698018.1:n.2463G>T
ENST00000698019.1:n.2661G>T
ENST00000698020.1:n.1767G>T
ENST00000698021.1:c.1676G>T
ENST00000698022.1:c.*382G>T	ENSP00000513504.1:n.*382G>T
ENST00000698023.1:n.2361G>T
ENST00000698024.1:n.2223G>T
ENST00000698025.1:n.2383G>T
ENST00000698026.1:n.1274G>T
ENST00000698027.1:c.*599G>T	ENSP00000513505.1:n.*599G>T
ENST00000698028.1:n.2466G>T
ENST00000698029.1:n.3195G>T
ENST00000448276.7:c.*382G>T MANE Select	ENSP00000392617.2:n.*382G>T
ENST00000323347.14:c.*382G>T	ENSP00000318451.10:n.*382G>T
ENST00000448276.6:c.*382G>T	ENSP00000392617.2:n.*382G>T
ENST00000613943.4:c.1867G>T	ENSP00000483605.1:n.1867G>T
NM_001098426.1:c.*382G>T	NP_001091896.1:n.*382G>T
XM_005257604.2:c.*382G>T	XP_005257661.2:n.*382G>T
NM_001330439.1:c.*382G>T	NP_001317368.1:n.*382G>T
NM_001330440.1:c.*382G>T	NP_001317369.1:n.*382G>T
NM_001098426.2:c.*382G>T MANE Select	NP_001091896.1:n.*382G>T
NM_001330440.2:c.*382G>T	NP_001317369.1:n.*382G>T