Canonical Allele Identifier: CA2639298093

Gene: SMARCD2

Linked Data

• gnomAD v4: 17-63832188-T-TCCCAGCCTC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832193_63832201dup , CM000679.2:g.63832193_63832201dup	GRCh38
NC_000017.10:g.61909553_61909561dup , CM000679.1:g.61909553_61909561dup	GRCh37
NC_000017.9:g.59263285_59263293dup	NCBI36
NG_053004.1:g.15795_15803dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2616_2624dup
ENST00000697953.1:n.3189_3197dup
ENST00000698013.1:n.3301_3309dup
ENST00000698014.1:n.3524_3532dup
ENST00000698015.1:n.2617_2625dup
ENST00000698016.1:c.*741_*749dup	ENSP00000513502.1:n.*741_*749dup
ENST00000698017.1:n.2691_2699dup
ENST00000698018.1:n.2822_2830dup
ENST00000698019.1:n.3020_3028dup
ENST00000698020.1:n.2126_2134dup
ENST00000698021.1:c.2035_2043dup
ENST00000698022.1:c.*741_*749dup	ENSP00000513504.1:n.*741_*749dup
ENST00000698023.1:n.2720_2728dup
ENST00000698024.1:n.2582_2590dup
ENST00000698025.1:n.2742_2750dup
ENST00000698026.1:n.1633_1641dup
ENST00000698027.1:c.*958_*966dup	ENSP00000513505.1:n.*958_*966dup
ENST00000698028.1:n.2825_2833dup
ENST00000448276.7:c.*741_*749dup MANE Select	ENSP00000392617.2:n.*741_*749dup
ENST00000448276.6:c.*741_*749dup	ENSP00000392617.2:n.*741_*749dup
ENST00000613943.4:c.2226_2234dup	ENSP00000483605.1:n.2226_2234dup
NM_001098426.1:c.*741_*749dup	NP_001091896.1:n.*741_*749dup
XM_005257604.2:c.*741_*749dup	XP_005257661.2:n.*741_*749dup
NM_001330439.1:c.*741_*749dup	NP_001317368.1:n.*741_*749dup
NM_001330440.1:c.*741_*749dup	NP_001317369.1:n.*741_*749dup
NM_001098426.2:c.*741_*749dup MANE Select	NP_001091896.1:n.*741_*749dup
NM_001330440.2:c.*741_*749dup	NP_001317369.1:n.*741_*749dup