Canonical Allele Identifier: CA773992942

Gene: SMARCD2

Linked Data

• dbSNP Id: rs1215576354
• gnomAD v4: 17-63832140-G-A
• MyVariant Identifiers: chr17:g.61909500G>A (hg19) ; chr17:g.63832140G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832140G>A , CM000679.2:g.63832140G>A	GRCh38
NC_000017.10:g.61909500G>A , CM000679.1:g.61909500G>A	GRCh37
NC_000017.9:g.59263232G>A	NCBI36
NG_053004.1:g.15852C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000697953.1:n.3246C>T
ENST00000698013.1:n.3358C>T
ENST00000698014.1:n.3581C>T
ENST00000698015.1:n.2674C>T
ENST00000698016.1:c.*798C>T	ENSP00000513502.1:n.*798C>T
ENST00000698017.1:n.2748C>T
ENST00000698018.1:n.2879C>T
ENST00000698019.1:n.3077C>T
ENST00000698020.1:n.2183C>T
ENST00000698021.1:c.2092C>T
ENST00000698022.1:c.*798C>T	ENSP00000513504.1:n.*798C>T
ENST00000698023.1:n.2777C>T
ENST00000698024.1:n.2639C>T
ENST00000698025.1:n.2799C>T
ENST00000698026.1:n.1690C>T
ENST00000698027.1:c.*1015C>T	ENSP00000513505.1:n.*1015C>T
ENST00000448276.7:c.*798C>T MANE Select	ENSP00000392617.2:n.*798C>T
ENST00000448276.6:c.*798C>T	ENSP00000392617.2:n.*798C>T
ENST00000613943.4:c.2283C>T	ENSP00000483605.1:n.2283C>T
NM_001098426.1:c.*798C>T	NP_001091896.1:n.*798C>T
XM_005257604.2:c.*798C>T	XP_005257661.2:n.*798C>T
NM_001330439.1:c.*798C>T	NP_001317368.1:n.*798C>T
NM_001330440.1:c.*798C>T	NP_001317369.1:n.*798C>T
NM_001098426.2:c.*798C>T MANE Select	NP_001091896.1:n.*798C>T
NM_001330440.2:c.*798C>T	NP_001317369.1:n.*798C>T