Canonical Allele Identifier: CA400601532

Gene: SMARCD2

Linked Data

• MyVariant Identifiers: chr17:g.61914846A>G (hg19) ; chr17:g.63837486A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63837486A>G , CM000679.2:g.63837486A>G	GRCh38
NC_000017.10:g.61914846A>G , CM000679.1:g.61914846A>G	GRCh37
NC_000017.9:g.59268578A>G	NCBI36
NG_053004.1:g.10506T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697953.1:n.244T>C
ENST00000698016.1:c.215T>C	ENSP00000513502.1:p.Leu72Pro
ENST00000698021.1:c.19T>C
ENST00000698022.1:c.173T>C	ENSP00000513504.1:p.Leu58Pro
ENST00000698027.1:c.215T>C	ENSP00000513505.1:p.Leu72Pro
ENST00000448276.7:c.356T>C MANE Select	ENSP00000392617.2:p.Leu119Pro
ENST00000225742.13:c.131T>C	ENSP00000225742.9:p.Leu44Pro
ENST00000323347.14:c.212T>C	ENSP00000318451.10:p.Leu71Pro
ENST00000448276.6:c.356T>C	ENSP00000392617.2:p.Leu119Pro
ENST00000577686.1:n.53-249T>C
ENST00000580054.1:c.140T>C	ENSP00000463793.1:p.Leu47Pro
ENST00000584400.5:c.217-249T>C	ENSP00000464503.1:n.217-249T>C
ENST00000613943.4:c.245T>C	ENSP00000483605.1:p.Leu82Pro
NM_001098426.1:c.356T>C	NP_001091896.1:p.Leu119Pro
XM_005257604.2:c.131T>C	XP_005257661.2:p.Leu44Pro
NM_001330439.1:c.131T>C	NP_001317368.1:p.Leu44Pro
NM_001330440.1:c.212T>C	NP_001317369.1:p.Leu71Pro
NM_001098426.2:c.356T>C MANE Select	NP_001091896.1:p.Leu119Pro
NM_001330440.2:c.212T>C	NP_001317369.1:p.Leu71Pro