Canonical Allele Identifier: CA773998243

Gene: SMARCD2

Linked Data

• dbSNP Id: rs1468809668
• gnomAD v4: 17-63837371-A-G
• MyVariant Identifiers: chr17:g.61914731A>G (hg19) ; chr17:g.63837371A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63837371A>G , CM000679.2:g.63837371A>G	GRCh38
NC_000017.10:g.61914731A>G , CM000679.1:g.61914731A>G	GRCh37
NC_000017.9:g.59268463A>G	NCBI36
NG_053004.1:g.10621T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000697953.1:n.359T>C
ENST00000698015.1:n.35+70T>C
ENST00000698016.1:c.260+70T>C	ENSP00000513502.1:n.260+70T>C
ENST00000698020.1:n.57T>C
ENST00000698021.1:c.64+70T>C
ENST00000698022.1:c.218+70T>C	ENSP00000513504.1:n.218+70T>C
ENST00000698027.1:c.260+70T>C	ENSP00000513505.1:n.260+70T>C
ENST00000448276.7:c.401+70T>C MANE Select	ENSP00000392617.2:n.401+70T>C
ENST00000225742.13:c.176+70T>C	ENSP00000225742.9:n.176+70T>C
ENST00000323347.14:c.257+70T>C	ENSP00000318451.10:n.257+70T>C
ENST00000448276.6:c.401+70T>C	ENSP00000392617.2:n.401+70T>C
ENST00000577686.1:n.53-134T>C
ENST00000580054.1:c.185+70T>C	ENSP00000463793.1:n.185+70T>C
ENST00000584400.5:c.217-134T>C	ENSP00000464503.1:n.217-134T>C
ENST00000613943.4:c.290+70T>C	ENSP00000483605.1:n.290+70T>C
NM_001098426.1:c.401+70T>C	NP_001091896.1:n.401+70T>C
XM_005257604.2:c.176+70T>C	XP_005257661.2:n.176+70T>C
NM_001330439.1:c.176+70T>C	NP_001317368.1:n.176+70T>C
NM_001330440.1:c.257+70T>C	NP_001317369.1:n.257+70T>C
NM_001098426.2:c.401+70T>C MANE Select	NP_001091896.1:n.401+70T>C
NM_001330440.2:c.257+70T>C	NP_001317369.1:n.257+70T>C