Canonical Allele Identifier: CA2639298232

Gene: SMARCD2

Linked Data

• gnomAD v4: 17-63832314-CAGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832317_63832319del , CM000679.2:g.63832317_63832319del	GRCh38
NC_000017.10:g.61909677_61909679del , CM000679.1:g.61909677_61909679del	GRCh37
NC_000017.9:g.59263409_59263411del	NCBI36
NG_053004.1:g.15675_15677del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2496_2498del
ENST00000697953.1:n.3069_3071del
ENST00000698013.1:n.3181_3183del
ENST00000698014.1:n.3404_3406del
ENST00000698015.1:n.2497_2499del
ENST00000698016.1:c.*621_*623del	ENSP00000513502.1:n.*621_*623del
ENST00000698017.1:n.2571_2573del
ENST00000698018.1:n.2702_2704del
ENST00000698019.1:n.2900_2902del
ENST00000698020.1:n.2006_2008del
ENST00000698021.1:c.1915_1917del
ENST00000698022.1:c.*621_*623del	ENSP00000513504.1:n.*621_*623del
ENST00000698023.1:n.2600_2602del
ENST00000698024.1:n.2462_2464del
ENST00000698025.1:n.2622_2624del
ENST00000698026.1:n.1513_1515del
ENST00000698027.1:c.*838_*840del	ENSP00000513505.1:n.*838_*840del
ENST00000698028.1:n.2705_2707del
ENST00000698029.1:n.3434_3436del
ENST00000448276.7:c.*621_*623del MANE Select	ENSP00000392617.2:n.*621_*623del
ENST00000448276.6:c.*621_*623del	ENSP00000392617.2:n.*621_*623del
ENST00000613943.4:c.2106_2108del	ENSP00000483605.1:n.2106_2108del
NM_001098426.1:c.*621_*623del	NP_001091896.1:n.*621_*623del
XM_005257604.2:c.*621_*623del	XP_005257661.2:n.*621_*623del
NM_001330439.1:c.*621_*623del	NP_001317368.1:n.*621_*623del
NM_001330440.1:c.*621_*623del	NP_001317369.1:n.*621_*623del
NM_001098426.2:c.*621_*623del MANE Select	NP_001091896.1:n.*621_*623del
NM_001330440.2:c.*621_*623del	NP_001317369.1:n.*621_*623del