Canonical Allele Identifier: CA2639298099

Gene: SMARCD2

Linked Data

• gnomAD v4: 17-63832192-AGCCTCCCCATTCACCTTACCCTG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832199_63832221del , CM000679.2:g.63832199_63832221del	GRCh38
NC_000017.10:g.61909559_61909581del , CM000679.1:g.61909559_61909581del	GRCh37
NC_000017.9:g.59263291_59263313del	NCBI36
NG_053004.1:g.15777_15799del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2598_2620del
ENST00000697953.1:n.3171_3193del
ENST00000698013.1:n.3283_3305del
ENST00000698014.1:n.3506_3528del
ENST00000698015.1:n.2599_2621del
ENST00000698016.1:c.*723_*745del	ENSP00000513502.1:n.*723_*745del
ENST00000698017.1:n.2673_2695del
ENST00000698018.1:n.2804_2826del
ENST00000698019.1:n.3002_3024del
ENST00000698020.1:n.2108_2130del
ENST00000698021.1:c.2017_2039del
ENST00000698022.1:c.*723_*745del	ENSP00000513504.1:n.*723_*745del
ENST00000698023.1:n.2702_2724del
ENST00000698024.1:n.2564_2586del
ENST00000698025.1:n.2724_2746del
ENST00000698026.1:n.1615_1637del
ENST00000698027.1:c.*940_*962del	ENSP00000513505.1:n.*940_*962del
ENST00000698028.1:n.2807_2829del
ENST00000448276.7:c.*723_*745del MANE Select	ENSP00000392617.2:n.*723_*745del
ENST00000448276.6:c.*723_*745del	ENSP00000392617.2:n.*723_*745del
ENST00000613943.4:c.2208_2230del	ENSP00000483605.1:n.2208_2230del
NM_001098426.1:c.*723_*745del	NP_001091896.1:n.*723_*745del
XM_005257604.2:c.*723_*745del	XP_005257661.2:n.*723_*745del
NM_001330439.1:c.*723_*745del	NP_001317368.1:n.*723_*745del
NM_001330440.1:c.*723_*745del	NP_001317369.1:n.*723_*745del
NM_001098426.2:c.*723_*745del MANE Select	NP_001091896.1:n.*723_*745del
NM_001330440.2:c.*723_*745del	NP_001317369.1:n.*723_*745del