Canonical Allele Identifier: CA292951550

Gene: SMARCD2

Linked Data

• dbSNP Id: rs958103899
• gnomAD v2: 17-61909494-C-T
• gnomAD v3: 17-63832134-C-T
• gnomAD v4: 17-63832134-C-T
• MyVariant Identifiers: chr17:g.61909494C>T (hg19) ; chr17:g.63832134C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832134C>T , CM000679.2:g.63832134C>T	GRCh38
NC_000017.10:g.61909494C>T , CM000679.1:g.61909494C>T	GRCh37
NC_000017.9:g.59263226C>T	NCBI36
NG_053004.1:g.15858G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000697953.1:n.3252G>A
ENST00000698013.1:n.3364G>A
ENST00000698014.1:n.3587G>A
ENST00000698015.1:n.2680G>A
ENST00000698016.1:c.*804G>A	ENSP00000513502.1:n.*804G>A
ENST00000698017.1:n.2754G>A
ENST00000698018.1:n.2885G>A
ENST00000698019.1:n.3083G>A
ENST00000698020.1:n.2189G>A
ENST00000698021.1:c.2098G>A
ENST00000698022.1:c.*804G>A	ENSP00000513504.1:n.*804G>A
ENST00000698023.1:n.2783G>A
ENST00000698024.1:n.2645G>A
ENST00000698025.1:n.2805G>A
ENST00000698026.1:n.1696G>A
ENST00000698027.1:c.*1021G>A	ENSP00000513505.1:n.*1021G>A
ENST00000448276.7:c.*804G>A MANE Select	ENSP00000392617.2:n.*804G>A
ENST00000448276.6:c.*804G>A	ENSP00000392617.2:n.*804G>A
ENST00000613943.4:c.2289G>A	ENSP00000483605.1:n.2289G>A
NM_001098426.1:c.*804G>A	NP_001091896.1:n.*804G>A
XM_005257604.2:c.*804G>A	XP_005257661.2:n.*804G>A
NM_001330439.1:c.*804G>A	NP_001317368.1:n.*804G>A
NM_001330440.1:c.*804G>A	NP_001317369.1:n.*804G>A
NM_001098426.2:c.*804G>A MANE Select	NP_001091896.1:n.*804G>A
NM_001330440.2:c.*804G>A	NP_001317369.1:n.*804G>A