Canonical Allele Identifier: CA626857156

Gene: SMARCD2

Linked Data

• dbSNP Id: rs1459925442
• gnomAD v2: 17-61909835-G-GA
• MyVariant Identifiers: chr17:g.61909835_61909836insA (hg19) ; chr17:g.63832475_63832476insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832481dup , CM000679.2:g.63832481dup	GRCh38
NC_000017.10:g.61909841dup , CM000679.1:g.61909841dup	GRCh37
NC_000017.9:g.59263573dup	NCBI36
NG_053004.1:g.15516dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2337dup
ENST00000697953.1:n.2910dup
ENST00000698013.1:n.3022dup
ENST00000698014.1:n.3245dup
ENST00000698015.1:n.2338dup
ENST00000698016.1:c.*462dup	ENSP00000513502.1:n.*462dup
ENST00000698017.1:n.2412dup
ENST00000698018.1:n.2543dup
ENST00000698019.1:n.2741dup
ENST00000698020.1:n.1847dup
ENST00000698021.1:c.1756dup
ENST00000698022.1:c.*462dup	ENSP00000513504.1:n.*462dup
ENST00000698023.1:n.2441dup
ENST00000698024.1:n.2303dup
ENST00000698025.1:n.2463dup
ENST00000698026.1:n.1354dup
ENST00000698027.1:c.*679dup	ENSP00000513505.1:n.*679dup
ENST00000698028.1:n.2546dup
ENST00000698029.1:n.3275dup
ENST00000448276.7:c.*462dup MANE Select	ENSP00000392617.2:n.*462dup
ENST00000448276.6:c.*462dup	ENSP00000392617.2:n.*462dup
ENST00000613943.4:c.1947dup	ENSP00000483605.1:n.1947dup
NM_001098426.1:c.*462dup	NP_001091896.1:n.*462dup
XM_005257604.2:c.*462dup	XP_005257661.2:n.*462dup
NM_001330439.1:c.*462dup	NP_001317368.1:n.*462dup
NM_001330440.1:c.*462dup	NP_001317369.1:n.*462dup
NM_001098426.2:c.*462dup MANE Select	NP_001091896.1:n.*462dup
NM_001330440.2:c.*462dup	NP_001317369.1:n.*462dup