Canonical Allele Identifier: CA501202335

Gene: SMARCD2

Linked Data

• gnomAD v4: 17-63837496-G-T
• MyVariant Identifiers: chr17:g.61914856G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63837496G>T , CM000679.2:g.63837496G>T	GRCh38
NC_000017.10:g.61914856G>T , CM000679.1:g.61914856G>T	GRCh37
NC_000017.9:g.59268588G>T	NCBI36
NG_053004.1:g.10496C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697953.1:n.234C>A
ENST00000698016.1:c.205C>A	ENSP00000513502.1:p.Arg69=
ENST00000698021.1:c.9C>A
ENST00000698022.1:c.163C>A	ENSP00000513504.1:p.Arg55=
ENST00000698027.1:c.205C>A	ENSP00000513505.1:p.Arg69=
ENST00000448276.7:c.346C>A MANE Select	ENSP00000392617.2:p.Arg116=
ENST00000225742.13:c.121C>A	ENSP00000225742.9:p.Arg41=
ENST00000323347.14:c.202C>A	ENSP00000318451.10:p.Arg68=
ENST00000448276.6:c.346C>A	ENSP00000392617.2:p.Arg116=
ENST00000577686.1:n.53-259C>A
ENST00000580054.1:c.130C>A	ENSP00000463793.1:p.Arg44=
ENST00000584400.5:c.217-259C>A	ENSP00000464503.1:n.217-259C>A
ENST00000613943.4:c.235C>A	ENSP00000483605.1:p.Arg79=
NM_001098426.1:c.346C>A	NP_001091896.1:p.Arg116=
XM_005257604.2:c.121C>A	XP_005257661.2:p.Arg41=
NM_001330439.1:c.121C>A	NP_001317368.1:p.Arg41=
NM_001330440.1:c.202C>A	NP_001317369.1:p.Arg68=
NM_001098426.2:c.346C>A MANE Select	NP_001091896.1:p.Arg116=
NM_001330440.2:c.202C>A	NP_001317369.1:p.Arg68=