Canonical Allele Identifier: CA2639297973

Gene: SMARCD2

Linked Data

• gnomAD v4: 17-63832112-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832112C>T , CM000679.2:g.63832112C>T	GRCh38
NC_000017.10:g.61909472C>T , CM000679.1:g.61909472C>T	GRCh37
NC_000017.9:g.59263204C>T	NCBI36
NG_053004.1:g.15880G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697953.1:n.3274G>A
ENST00000698013.1:n.3386G>A
ENST00000698014.1:n.3609G>A
ENST00000698015.1:n.2702G>A
ENST00000698016.1:c.*826G>A	ENSP00000513502.1:n.*826G>A
ENST00000698017.1:n.2776G>A
ENST00000698018.1:n.2907G>A
ENST00000698019.1:n.3105G>A
ENST00000698020.1:n.2211G>A
ENST00000698021.1:c.2120G>A
ENST00000698022.1:c.*826G>A	ENSP00000513504.1:n.*826G>A
ENST00000698023.1:n.2805G>A
ENST00000698024.1:n.2667G>A
ENST00000448276.7:c.*826G>A MANE Select	ENSP00000392617.2:n.*826G>A
ENST00000448276.6:c.*826G>A	ENSP00000392617.2:n.*826G>A
ENST00000613943.4:c.2311G>A	ENSP00000483605.1:n.2311G>A
NM_001098426.1:c.*826G>A	NP_001091896.1:n.*826G>A
XM_005257604.2:c.*826G>A	XP_005257661.2:n.*826G>A
NM_001330439.1:c.*826G>A	NP_001317368.1:n.*826G>A
NM_001330440.1:c.*826G>A	NP_001317369.1:n.*826G>A
NM_001098426.2:c.*826G>A MANE Select	NP_001091896.1:n.*826G>A
NM_001330440.2:c.*826G>A	NP_001317369.1:n.*826G>A