Canonical Allele Identifier: CA2639298420

Gene: SMARCD2

Linked Data

• gnomAD v4: 17-63832512-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832512C>A , CM000679.2:g.63832512C>A	GRCh38
NC_000017.10:g.61909872C>A , CM000679.1:g.61909872C>A	GRCh37
NC_000017.9:g.59263604C>A	NCBI36
NG_053004.1:g.15480G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2301G>T
ENST00000697953.1:n.2874G>T
ENST00000698013.1:n.2986G>T
ENST00000698014.1:n.3209G>T
ENST00000698015.1:n.2302G>T
ENST00000698016.1:c.*426G>T	ENSP00000513502.1:n.*426G>T
ENST00000698017.1:n.2376G>T
ENST00000698018.1:n.2507G>T
ENST00000698019.1:n.2705G>T
ENST00000698020.1:n.1811G>T
ENST00000698021.1:c.1720G>T
ENST00000698022.1:c.*426G>T	ENSP00000513504.1:n.*426G>T
ENST00000698023.1:n.2405G>T
ENST00000698024.1:n.2267G>T
ENST00000698025.1:n.2427G>T
ENST00000698026.1:n.1318G>T
ENST00000698027.1:c.*643G>T	ENSP00000513505.1:n.*643G>T
ENST00000698028.1:n.2510G>T
ENST00000698029.1:n.3239G>T
ENST00000448276.7:c.*426G>T MANE Select	ENSP00000392617.2:n.*426G>T
ENST00000323347.14:c.*426G>T	ENSP00000318451.10:n.*426G>T
ENST00000448276.6:c.*426G>T	ENSP00000392617.2:n.*426G>T
ENST00000613943.4:c.1911G>T	ENSP00000483605.1:n.1911G>T
NM_001098426.1:c.*426G>T	NP_001091896.1:n.*426G>T
XM_005257604.2:c.*426G>T	XP_005257661.2:n.*426G>T
NM_001330439.1:c.*426G>T	NP_001317368.1:n.*426G>T
NM_001330440.1:c.*426G>T	NP_001317369.1:n.*426G>T
NM_001098426.2:c.*426G>T MANE Select	NP_001091896.1:n.*426G>T
NM_001330440.2:c.*426G>T	NP_001317369.1:n.*426G>T