Canonical Allele Identifier: CA2639298272

Gene: SMARCD2

Linked Data

• gnomAD v4: 17-63832360-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832360A>G , CM000679.2:g.63832360A>G	GRCh38
NC_000017.10:g.61909720A>G , CM000679.1:g.61909720A>G	GRCh37
NC_000017.9:g.59263452A>G	NCBI36
NG_053004.1:g.15632T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2453T>C
ENST00000697953.1:n.3026T>C
ENST00000698013.1:n.3138T>C
ENST00000698014.1:n.3361T>C
ENST00000698015.1:n.2454T>C
ENST00000698016.1:c.*578T>C	ENSP00000513502.1:n.*578T>C
ENST00000698017.1:n.2528T>C
ENST00000698018.1:n.2659T>C
ENST00000698019.1:n.2857T>C
ENST00000698020.1:n.1963T>C
ENST00000698021.1:c.1872T>C
ENST00000698022.1:c.*578T>C	ENSP00000513504.1:n.*578T>C
ENST00000698023.1:n.2557T>C
ENST00000698024.1:n.2419T>C
ENST00000698025.1:n.2579T>C
ENST00000698026.1:n.1470T>C
ENST00000698027.1:c.*795T>C	ENSP00000513505.1:n.*795T>C
ENST00000698028.1:n.2662T>C
ENST00000698029.1:n.3391T>C
ENST00000448276.7:c.*578T>C MANE Select	ENSP00000392617.2:n.*578T>C
ENST00000448276.6:c.*578T>C	ENSP00000392617.2:n.*578T>C
ENST00000613943.4:c.2063T>C	ENSP00000483605.1:n.2063T>C
NM_001098426.1:c.*578T>C	NP_001091896.1:n.*578T>C
XM_005257604.2:c.*578T>C	XP_005257661.2:n.*578T>C
NM_001330439.1:c.*578T>C	NP_001317368.1:n.*578T>C
NM_001330440.1:c.*578T>C	NP_001317369.1:n.*578T>C
NM_001098426.2:c.*578T>C MANE Select	NP_001091896.1:n.*578T>C
NM_001330440.2:c.*578T>C	NP_001317369.1:n.*578T>C