Canonical Allele Identifier: CA501202325

Gene: SMARCD2

Linked Data

• MyVariant Identifiers: chr17:g.61914848G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63837488G>A , CM000679.2:g.63837488G>A	GRCh38
NC_000017.10:g.61914848G>A , CM000679.1:g.61914848G>A	GRCh37
NC_000017.9:g.59268580G>A	NCBI36
NG_053004.1:g.10504C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697953.1:n.242C>T
ENST00000698016.1:c.213C>T	ENSP00000513502.1:p.Arg71=
ENST00000698021.1:c.17C>T
ENST00000698022.1:c.171C>T	ENSP00000513504.1:p.Arg57=
ENST00000698027.1:c.213C>T	ENSP00000513505.1:p.Arg71=
ENST00000448276.7:c.354C>T MANE Select	ENSP00000392617.2:p.Arg118=
ENST00000225742.13:c.129C>T	ENSP00000225742.9:p.Arg43=
ENST00000323347.14:c.210C>T	ENSP00000318451.10:p.Arg70=
ENST00000448276.6:c.354C>T	ENSP00000392617.2:p.Arg118=
ENST00000577686.1:n.53-251C>T
ENST00000580054.1:c.138C>T	ENSP00000463793.1:p.Arg46=
ENST00000584400.5:c.217-251C>T	ENSP00000464503.1:n.217-251C>T
ENST00000613943.4:c.243C>T	ENSP00000483605.1:p.Arg81=
NM_001098426.1:c.354C>T	NP_001091896.1:p.Arg118=
XM_005257604.2:c.129C>T	XP_005257661.2:p.Arg43=
NM_001330439.1:c.129C>T	NP_001317368.1:p.Arg43=
NM_001330440.1:c.210C>T	NP_001317369.1:p.Arg70=
NM_001098426.2:c.354C>T MANE Select	NP_001091896.1:p.Arg118=
NM_001330440.2:c.210C>T	NP_001317369.1:p.Arg70=