Canonical Allele Identifier: CA400601554

Gene: SMARCD2

Linked Data

• MyVariant Identifiers: chr17:g.61914857G>T (hg19) ; chr17:g.63837497G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63837497G>T , CM000679.2:g.63837497G>T	GRCh38
NC_000017.10:g.61914857G>T , CM000679.1:g.61914857G>T	GRCh37
NC_000017.9:g.59268589G>T	NCBI36
NG_053004.1:g.10495C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697953.1:n.233C>A
ENST00000698016.1:c.204C>A	ENSP00000513502.1:p.Phe68Leu
ENST00000698021.1:c.8C>A
ENST00000698022.1:c.162C>A	ENSP00000513504.1:p.Phe54Leu
ENST00000698027.1:c.204C>A	ENSP00000513505.1:p.Phe68Leu
ENST00000448276.7:c.345C>A MANE Select	ENSP00000392617.2:p.Phe115Leu
ENST00000225742.13:c.120C>A	ENSP00000225742.9:p.Phe40Leu
ENST00000323347.14:c.201C>A	ENSP00000318451.10:p.Phe67Leu
ENST00000448276.6:c.345C>A	ENSP00000392617.2:p.Phe115Leu
ENST00000577686.1:n.53-260C>A
ENST00000580054.1:c.129C>A	ENSP00000463793.1:p.Phe43Leu
ENST00000584400.5:c.217-260C>A	ENSP00000464503.1:n.217-260C>A
ENST00000613943.4:c.234C>A	ENSP00000483605.1:p.Phe78Leu
NM_001098426.1:c.345C>A	NP_001091896.1:p.Phe115Leu
XM_005257604.2:c.120C>A	XP_005257661.2:p.Phe40Leu
NM_001330439.1:c.120C>A	NP_001317368.1:p.Phe40Leu
NM_001330440.1:c.201C>A	NP_001317369.1:p.Phe67Leu
NM_001098426.2:c.345C>A MANE Select	NP_001091896.1:p.Phe115Leu
NM_001330440.2:c.201C>A	NP_001317369.1:p.Phe67Leu