Canonical Allele Identifier: CA292954682

Gene: SMARCD2

Linked Data

• dbSNP Id: rs1024485951
• gnomAD v3: 17-63837446-G-A
• gnomAD v4: 17-63837446-G-A
• MyVariant Identifiers: chr17:g.61914806G>A (hg19) ; chr17:g.63837446G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63837446G>A , CM000679.2:g.63837446G>A	GRCh38
NC_000017.10:g.61914806G>A , CM000679.1:g.61914806G>A	GRCh37
NC_000017.9:g.59268538G>A	NCBI36
NG_053004.1:g.10546C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697953.1:n.284C>T
ENST00000698015.1:n.30C>T
ENST00000698016.1:c.255C>T	ENSP00000513502.1:p.Arg85=
ENST00000698021.1:c.59C>T
ENST00000698022.1:c.213C>T	ENSP00000513504.1:p.Arg71=
ENST00000698027.1:c.255C>T	ENSP00000513505.1:p.Arg85=
ENST00000448276.7:c.396C>T MANE Select	ENSP00000392617.2:p.Arg132=
ENST00000225742.13:c.171C>T	ENSP00000225742.9:p.Arg57=
ENST00000323347.14:c.252C>T	ENSP00000318451.10:p.Arg84=
ENST00000448276.6:c.396C>T	ENSP00000392617.2:p.Arg132=
ENST00000577686.1:n.53-209C>T
ENST00000580054.1:c.180C>T	ENSP00000463793.1:p.Arg60=
ENST00000584400.5:c.217-209C>T	ENSP00000464503.1:n.217-209C>T
ENST00000613943.4:c.285C>T	ENSP00000483605.1:p.Arg95=
NM_001098426.1:c.396C>T	NP_001091896.1:p.Arg132=
XM_005257604.2:c.171C>T	XP_005257661.2:p.Arg57=
NM_001330439.1:c.171C>T	NP_001317368.1:p.Arg57=
NM_001330440.1:c.252C>T	NP_001317369.1:p.Arg84=
NM_001098426.2:c.396C>T MANE Select	NP_001091896.1:p.Arg132=
NM_001330440.2:c.252C>T	NP_001317369.1:p.Arg84=