Canonical Allele Identifier: CA501202324

Gene: SMARCD2

Linked Data

• MyVariant Identifiers: chr17:g.61914845C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63837485C>T , CM000679.2:g.63837485C>T	GRCh38
NC_000017.10:g.61914845C>T , CM000679.1:g.61914845C>T	GRCh37
NC_000017.9:g.59268577C>T	NCBI36
NG_053004.1:g.10507G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697953.1:n.245G>A
ENST00000698016.1:c.216G>A	ENSP00000513502.1:p.Leu72=
ENST00000698021.1:c.20G>A
ENST00000698022.1:c.174G>A	ENSP00000513504.1:p.Leu58=
ENST00000698027.1:c.216G>A	ENSP00000513505.1:p.Leu72=
ENST00000448276.7:c.357G>A MANE Select	ENSP00000392617.2:p.Leu119=
ENST00000225742.13:c.132G>A	ENSP00000225742.9:p.Leu44=
ENST00000323347.14:c.213G>A	ENSP00000318451.10:p.Leu71=
ENST00000448276.6:c.357G>A	ENSP00000392617.2:p.Leu119=
ENST00000577686.1:n.53-248G>A
ENST00000580054.1:c.141G>A	ENSP00000463793.1:p.Leu47=
ENST00000584400.5:c.217-248G>A	ENSP00000464503.1:n.217-248G>A
ENST00000613943.4:c.246G>A	ENSP00000483605.1:p.Leu82=
NM_001098426.1:c.357G>A	NP_001091896.1:p.Leu119=
XM_005257604.2:c.132G>A	XP_005257661.2:p.Leu44=
NM_001330439.1:c.132G>A	NP_001317368.1:p.Leu44=
NM_001330440.1:c.213G>A	NP_001317369.1:p.Leu71=
NM_001098426.2:c.357G>A MANE Select	NP_001091896.1:p.Leu119=
NM_001330440.2:c.213G>A	NP_001317369.1:p.Leu71=