Canonical Allele Identifier: CA292951549

Gene: SMARCD2

Linked Data

• dbSNP Id: rs1040320945
• gnomAD v3: 17-63832132-C-G
• gnomAD v4: 17-63832132-C-G
• MyVariant Identifiers: chr17:g.61909492C>G (hg19) ; chr17:g.63832132C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832132C>G , CM000679.2:g.63832132C>G	GRCh38
NC_000017.10:g.61909492C>G , CM000679.1:g.61909492C>G	GRCh37
NC_000017.9:g.59263224C>G	NCBI36
NG_053004.1:g.15860G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000697953.1:n.3254G>C
ENST00000698013.1:n.3366G>C
ENST00000698014.1:n.3589G>C
ENST00000698015.1:n.2682G>C
ENST00000698016.1:c.*806G>C	ENSP00000513502.1:n.*806G>C
ENST00000698017.1:n.2756G>C
ENST00000698018.1:n.2887G>C
ENST00000698019.1:n.3085G>C
ENST00000698020.1:n.2191G>C
ENST00000698021.1:c.2100G>C
ENST00000698022.1:c.*806G>C	ENSP00000513504.1:n.*806G>C
ENST00000698023.1:n.2785G>C
ENST00000698024.1:n.2647G>C
ENST00000698025.1:n.2807G>C
ENST00000698026.1:n.1698G>C
ENST00000448276.7:c.*806G>C MANE Select	ENSP00000392617.2:n.*806G>C
ENST00000448276.6:c.*806G>C	ENSP00000392617.2:n.*806G>C
ENST00000613943.4:c.2291G>C	ENSP00000483605.1:n.2291G>C
NM_001098426.1:c.*806G>C	NP_001091896.1:n.*806G>C
XM_005257604.2:c.*806G>C	XP_005257661.2:n.*806G>C
NM_001330439.1:c.*806G>C	NP_001317368.1:n.*806G>C
NM_001330440.1:c.*806G>C	NP_001317369.1:n.*806G>C
NM_001098426.2:c.*806G>C MANE Select	NP_001091896.1:n.*806G>C
NM_001330440.2:c.*806G>C	NP_001317369.1:n.*806G>C