Canonical Allele Identifier: CA2639298122

Gene: SMARCD2

Linked Data

• gnomAD v4: 17-63832207-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832209del , CM000679.2:g.63832209del	GRCh38
NC_000017.10:g.61909569del , CM000679.1:g.61909569del	GRCh37
NC_000017.9:g.59263301del	NCBI36
NG_053004.1:g.15784del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2605del
ENST00000697953.1:n.3178del
ENST00000698013.1:n.3290del
ENST00000698014.1:n.3513del
ENST00000698015.1:n.2606del
ENST00000698016.1:c.*730del	ENSP00000513502.1:n.*730del
ENST00000698017.1:n.2680del
ENST00000698018.1:n.2811del
ENST00000698019.1:n.3009del
ENST00000698020.1:n.2115del
ENST00000698021.1:c.2024del
ENST00000698022.1:c.*730del	ENSP00000513504.1:n.*730del
ENST00000698023.1:n.2709del
ENST00000698024.1:n.2571del
ENST00000698025.1:n.2731del
ENST00000698026.1:n.1622del
ENST00000698027.1:c.*947del	ENSP00000513505.1:n.*947del
ENST00000698028.1:n.2814del
ENST00000448276.7:c.*730del MANE Select	ENSP00000392617.2:n.*730del
ENST00000448276.6:c.*730del	ENSP00000392617.2:n.*730del
ENST00000613943.4:c.2215del	ENSP00000483605.1:n.2215del
NM_001098426.1:c.*730del	NP_001091896.1:n.*730del
XM_005257604.2:c.*730del	XP_005257661.2:n.*730del
NM_001330439.1:c.*730del	NP_001317368.1:n.*730del
NM_001330440.1:c.*730del	NP_001317369.1:n.*730del
NM_001098426.2:c.*730del MANE Select	NP_001091896.1:n.*730del
NM_001330440.2:c.*730del	NP_001317369.1:n.*730del