Canonical Allele Identifier: CA2639298143

Gene: SMARCD2

Linked Data

• gnomAD v4: 17-63832220-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832220C>A , CM000679.2:g.63832220C>A	GRCh38
NC_000017.10:g.61909580C>A , CM000679.1:g.61909580C>A	GRCh37
NC_000017.9:g.59263312C>A	NCBI36
NG_053004.1:g.15772G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2593G>T
ENST00000697953.1:n.3166G>T
ENST00000698013.1:n.3278G>T
ENST00000698014.1:n.3501G>T
ENST00000698015.1:n.2594G>T
ENST00000698016.1:c.*718G>T	ENSP00000513502.1:n.*718G>T
ENST00000698017.1:n.2668G>T
ENST00000698018.1:n.2799G>T
ENST00000698019.1:n.2997G>T
ENST00000698020.1:n.2103G>T
ENST00000698021.1:c.2012G>T
ENST00000698022.1:c.*718G>T	ENSP00000513504.1:n.*718G>T
ENST00000698023.1:n.2697G>T
ENST00000698024.1:n.2559G>T
ENST00000698025.1:n.2719G>T
ENST00000698026.1:n.1610G>T
ENST00000698027.1:c.*935G>T	ENSP00000513505.1:n.*935G>T
ENST00000698028.1:n.2802G>T
ENST00000448276.7:c.*718G>T MANE Select	ENSP00000392617.2:n.*718G>T
ENST00000448276.6:c.*718G>T	ENSP00000392617.2:n.*718G>T
ENST00000613943.4:c.2203G>T	ENSP00000483605.1:n.2203G>T
NM_001098426.1:c.*718G>T	NP_001091896.1:n.*718G>T
XM_005257604.2:c.*718G>T	XP_005257661.2:n.*718G>T
NM_001330439.1:c.*718G>T	NP_001317368.1:n.*718G>T
NM_001330440.1:c.*718G>T	NP_001317369.1:n.*718G>T
NM_001098426.2:c.*718G>T MANE Select	NP_001091896.1:n.*718G>T
NM_001330440.2:c.*718G>T	NP_001317369.1:n.*718G>T