Canonical Allele Identifier: CA2639297962

Gene: SMARCD2

Linked Data

• gnomAD v4: 17-63832100-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832100T>A , CM000679.2:g.63832100T>A	GRCh38
NC_000017.10:g.61909460T>A , CM000679.1:g.61909460T>A	GRCh37
NC_000017.9:g.59263192T>A	NCBI36
NG_053004.1:g.15892A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697953.1:n.3286A>T
ENST00000698013.1:n.3398A>T
ENST00000698014.1:n.3621A>T
ENST00000698015.1:n.2714A>T
ENST00000698016.1:c.*838A>T	ENSP00000513502.1:n.*838A>T
ENST00000698017.1:n.2788A>T
ENST00000698018.1:n.2919A>T
ENST00000698019.1:n.3117A>T
ENST00000698020.1:n.2223A>T
ENST00000698021.1:c.2132A>T
ENST00000698022.1:c.*838A>T	ENSP00000513504.1:n.*838A>T
ENST00000698023.1:n.2817A>T
ENST00000448276.7:c.*838A>T MANE Select	ENSP00000392617.2:n.*838A>T
ENST00000448276.6:c.*838A>T	ENSP00000392617.2:n.*838A>T
ENST00000613943.4:c.2323A>T	ENSP00000483605.1:n.2323A>T
NM_001098426.1:c.*838A>T	NP_001091896.1:n.*838A>T
XM_005257604.2:c.*838A>T	XP_005257661.2:n.*838A>T
NM_001330439.1:c.*838A>T	NP_001317368.1:n.*838A>T
NM_001330440.1:c.*838A>T	NP_001317369.1:n.*838A>T
NM_001098426.2:c.*838A>T MANE Select	NP_001091896.1:n.*838A>T
NM_001330440.2:c.*838A>T	NP_001317369.1:n.*838A>T