Canonical Allele Identifier: CA2639297971

Gene: SMARCD2

Linked Data

• gnomAD v4: 17-63832111-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832111C>A , CM000679.2:g.63832111C>A	GRCh38
NC_000017.10:g.61909471C>A , CM000679.1:g.61909471C>A	GRCh37
NC_000017.9:g.59263203C>A	NCBI36
NG_053004.1:g.15881G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697953.1:n.3275G>T
ENST00000698013.1:n.3387G>T
ENST00000698014.1:n.3610G>T
ENST00000698015.1:n.2703G>T
ENST00000698016.1:c.*827G>T	ENSP00000513502.1:n.*827G>T
ENST00000698017.1:n.2777G>T
ENST00000698018.1:n.2908G>T
ENST00000698019.1:n.3106G>T
ENST00000698020.1:n.2212G>T
ENST00000698021.1:c.2121G>T
ENST00000698022.1:c.*827G>T	ENSP00000513504.1:n.*827G>T
ENST00000698023.1:n.2806G>T
ENST00000698024.1:n.2668G>T
ENST00000448276.7:c.*827G>T MANE Select	ENSP00000392617.2:n.*827G>T
ENST00000448276.6:c.*827G>T	ENSP00000392617.2:n.*827G>T
ENST00000613943.4:c.2312G>T	ENSP00000483605.1:n.2312G>T
NM_001098426.1:c.*827G>T	NP_001091896.1:n.*827G>T
XM_005257604.2:c.*827G>T	XP_005257661.2:n.*827G>T
NM_001330439.1:c.*827G>T	NP_001317368.1:n.*827G>T
NM_001330440.1:c.*827G>T	NP_001317369.1:n.*827G>T
NM_001098426.2:c.*827G>T MANE Select	NP_001091896.1:n.*827G>T
NM_001330440.2:c.*827G>T	NP_001317369.1:n.*827G>T