Canonical Allele Identifier: CA400601471

Gene: SMARCD2

Linked Data

• MyVariant Identifiers: chr17:g.61914816G>C (hg19) ; chr17:g.63837456G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63837456G>C , CM000679.2:g.63837456G>C	GRCh38
NC_000017.10:g.61914816G>C , CM000679.1:g.61914816G>C	GRCh37
NC_000017.9:g.59268548G>C	NCBI36
NG_053004.1:g.10536C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697953.1:n.274C>G
ENST00000698015.1:n.20C>G
ENST00000698016.1:c.245C>G	ENSP00000513502.1:p.Pro82Arg
ENST00000698021.1:c.49C>G
ENST00000698022.1:c.203C>G	ENSP00000513504.1:p.Pro68Arg
ENST00000698027.1:c.245C>G	ENSP00000513505.1:p.Pro82Arg
ENST00000448276.7:c.386C>G MANE Select	ENSP00000392617.2:p.Pro129Arg
ENST00000225742.13:c.161C>G	ENSP00000225742.9:p.Pro54Arg
ENST00000323347.14:c.242C>G	ENSP00000318451.10:p.Pro81Arg
ENST00000448276.6:c.386C>G	ENSP00000392617.2:p.Pro129Arg
ENST00000577686.1:n.53-219C>G
ENST00000580054.1:c.170C>G	ENSP00000463793.1:p.Pro57Arg
ENST00000584400.5:c.217-219C>G	ENSP00000464503.1:n.217-219C>G
ENST00000613943.4:c.275C>G	ENSP00000483605.1:p.Pro92Arg
NM_001098426.1:c.386C>G	NP_001091896.1:p.Pro129Arg
XM_005257604.2:c.161C>G	XP_005257661.2:p.Pro54Arg
NM_001330439.1:c.161C>G	NP_001317368.1:p.Pro54Arg
NM_001330440.1:c.242C>G	NP_001317369.1:p.Pro81Arg
NM_001098426.2:c.386C>G MANE Select	NP_001091896.1:p.Pro129Arg
NM_001330440.2:c.242C>G	NP_001317369.1:p.Pro81Arg