Canonical Allele Identifier: CA292951740

Gene: SMARCD2

Linked Data

• dbSNP Id: rs923209736
• gnomAD v2: 17-61909744-C-T
• gnomAD v3: 17-63832384-C-T
• gnomAD v4: 17-63832384-C-T
• MyVariant Identifiers: chr17:g.61909744C>T (hg19) ; chr17:g.63832384C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832384C>T , CM000679.2:g.63832384C>T	GRCh38
NC_000017.10:g.61909744C>T , CM000679.1:g.61909744C>T	GRCh37
NC_000017.9:g.59263476C>T	NCBI36
NG_053004.1:g.15608G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2429G>A
ENST00000697953.1:n.3002G>A
ENST00000698013.1:n.3114G>A
ENST00000698014.1:n.3337G>A
ENST00000698015.1:n.2430G>A
ENST00000698016.1:c.*554G>A	ENSP00000513502.1:n.*554G>A
ENST00000698017.1:n.2504G>A
ENST00000698018.1:n.2635G>A
ENST00000698019.1:n.2833G>A
ENST00000698020.1:n.1939G>A
ENST00000698021.1:c.1848G>A
ENST00000698022.1:c.*554G>A	ENSP00000513504.1:n.*554G>A
ENST00000698023.1:n.2533G>A
ENST00000698024.1:n.2395G>A
ENST00000698025.1:n.2555G>A
ENST00000698026.1:n.1446G>A
ENST00000698027.1:c.*771G>A	ENSP00000513505.1:n.*771G>A
ENST00000698028.1:n.2638G>A
ENST00000698029.1:n.3367G>A
ENST00000448276.7:c.*554G>A MANE Select	ENSP00000392617.2:n.*554G>A
ENST00000448276.6:c.*554G>A	ENSP00000392617.2:n.*554G>A
ENST00000613943.4:c.2039G>A	ENSP00000483605.1:n.2039G>A
NM_001098426.1:c.*554G>A	NP_001091896.1:n.*554G>A
XM_005257604.2:c.*554G>A	XP_005257661.2:n.*554G>A
NM_001330439.1:c.*554G>A	NP_001317368.1:n.*554G>A
NM_001330440.1:c.*554G>A	NP_001317369.1:n.*554G>A
NM_001098426.2:c.*554G>A MANE Select	NP_001091896.1:n.*554G>A
NM_001330440.2:c.*554G>A	NP_001317369.1:n.*554G>A