Canonical Allele Identifier: CA292954591

Gene: SMARCD2

Linked Data

• dbSNP Id: rs890328152
• gnomAD v3: 17-63837297-A-G
• gnomAD v4: 17-63837297-A-G
• MyVariant Identifiers: chr17:g.61914657A>G (hg19) ; chr17:g.63837297A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63837297A>G , CM000679.2:g.63837297A>G	GRCh38
NC_000017.10:g.61914657A>G , CM000679.1:g.61914657A>G	GRCh37
NC_000017.9:g.59268389A>G	NCBI36
NG_053004.1:g.10695T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697953.1:n.433T>C
ENST00000698015.1:n.36-60T>C
ENST00000698016.1:c.261-60T>C	ENSP00000513502.1:n.261-60T>C
ENST00000698020.1:n.131T>C
ENST00000698021.1:c.65-60T>C
ENST00000698022.1:c.219-60T>C	ENSP00000513504.1:n.219-60T>C
ENST00000698027.1:c.261-60T>C	ENSP00000513505.1:n.261-60T>C
ENST00000448276.7:c.402-60T>C MANE Select	ENSP00000392617.2:n.402-60T>C
ENST00000225742.13:c.177-60T>C	ENSP00000225742.9:n.177-60T>C
ENST00000323347.14:c.258-60T>C	ENSP00000318451.10:n.258-60T>C
ENST00000448276.6:c.402-60T>C	ENSP00000392617.2:n.402-60T>C
ENST00000577686.1:n.53-60T>C
ENST00000580054.1:c.186-60T>C	ENSP00000463793.1:n.186-60T>C
ENST00000584400.5:c.217-60T>C	ENSP00000464503.1:n.217-60T>C
ENST00000613943.4:c.291-60T>C	ENSP00000483605.1:n.291-60T>C
NM_001098426.1:c.402-60T>C	NP_001091896.1:n.402-60T>C
XM_005257604.2:c.177-60T>C	XP_005257661.2:n.177-60T>C
NM_001330439.1:c.177-60T>C	NP_001317368.1:n.177-60T>C
NM_001330440.1:c.258-60T>C	NP_001317369.1:n.258-60T>C
NM_001098426.2:c.402-60T>C MANE Select	NP_001091896.1:n.402-60T>C
NM_001330440.2:c.258-60T>C	NP_001317369.1:n.258-60T>C