Canonical Allele Identifier: CA2639298283

Gene: SMARCD2

Linked Data

• gnomAD v4: 17-63832371-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832371C>T , CM000679.2:g.63832371C>T	GRCh38
NC_000017.10:g.61909731C>T , CM000679.1:g.61909731C>T	GRCh37
NC_000017.9:g.59263463C>T	NCBI36
NG_053004.1:g.15621G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2442G>A
ENST00000697953.1:n.3015G>A
ENST00000698013.1:n.3127G>A
ENST00000698014.1:n.3350G>A
ENST00000698015.1:n.2443G>A
ENST00000698016.1:c.*567G>A	ENSP00000513502.1:n.*567G>A
ENST00000698017.1:n.2517G>A
ENST00000698018.1:n.2648G>A
ENST00000698019.1:n.2846G>A
ENST00000698020.1:n.1952G>A
ENST00000698021.1:c.1861G>A
ENST00000698022.1:c.*567G>A	ENSP00000513504.1:n.*567G>A
ENST00000698023.1:n.2546G>A
ENST00000698024.1:n.2408G>A
ENST00000698025.1:n.2568G>A
ENST00000698026.1:n.1459G>A
ENST00000698027.1:c.*784G>A	ENSP00000513505.1:n.*784G>A
ENST00000698028.1:n.2651G>A
ENST00000698029.1:n.3380G>A
ENST00000448276.7:c.*567G>A MANE Select	ENSP00000392617.2:n.*567G>A
ENST00000448276.6:c.*567G>A	ENSP00000392617.2:n.*567G>A
ENST00000613943.4:c.2052G>A	ENSP00000483605.1:n.2052G>A
NM_001098426.1:c.*567G>A	NP_001091896.1:n.*567G>A
XM_005257604.2:c.*567G>A	XP_005257661.2:n.*567G>A
NM_001330439.1:c.*567G>A	NP_001317368.1:n.*567G>A
NM_001330440.1:c.*567G>A	NP_001317369.1:n.*567G>A
NM_001098426.2:c.*567G>A MANE Select	NP_001091896.1:n.*567G>A
NM_001330440.2:c.*567G>A	NP_001317369.1:n.*567G>A