Canonical Allele Identifier: CA2639298109

Gene: SMARCD2

Linked Data

• gnomAD v4: 17-63832198-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832198C>A , CM000679.2:g.63832198C>A	GRCh38
NC_000017.10:g.61909558C>A , CM000679.1:g.61909558C>A	GRCh37
NC_000017.9:g.59263290C>A	NCBI36
NG_053004.1:g.15794G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2615G>T
ENST00000697953.1:n.3188G>T
ENST00000698013.1:n.3300G>T
ENST00000698014.1:n.3523G>T
ENST00000698015.1:n.2616G>T
ENST00000698016.1:c.*740G>T	ENSP00000513502.1:n.*740G>T
ENST00000698017.1:n.2690G>T
ENST00000698018.1:n.2821G>T
ENST00000698019.1:n.3019G>T
ENST00000698020.1:n.2125G>T
ENST00000698021.1:c.2034G>T
ENST00000698022.1:c.*740G>T	ENSP00000513504.1:n.*740G>T
ENST00000698023.1:n.2719G>T
ENST00000698024.1:n.2581G>T
ENST00000698025.1:n.2741G>T
ENST00000698026.1:n.1632G>T
ENST00000698027.1:c.*957G>T	ENSP00000513505.1:n.*957G>T
ENST00000698028.1:n.2824G>T
ENST00000448276.7:c.*740G>T MANE Select	ENSP00000392617.2:n.*740G>T
ENST00000448276.6:c.*740G>T	ENSP00000392617.2:n.*740G>T
ENST00000613943.4:c.2225G>T	ENSP00000483605.1:n.2225G>T
NM_001098426.1:c.*740G>T	NP_001091896.1:n.*740G>T
XM_005257604.2:c.*740G>T	XP_005257661.2:n.*740G>T
NM_001330439.1:c.*740G>T	NP_001317368.1:n.*740G>T
NM_001330440.1:c.*740G>T	NP_001317369.1:n.*740G>T
NM_001098426.2:c.*740G>T MANE Select	NP_001091896.1:n.*740G>T
NM_001330440.2:c.*740G>T	NP_001317369.1:n.*740G>T