Canonical Allele Identifier: CA2639298256

Gene: SMARCD2

Linked Data

• gnomAD v4: 17-63832343-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832343C>G , CM000679.2:g.63832343C>G	GRCh38
NC_000017.10:g.61909703C>G , CM000679.1:g.61909703C>G	GRCh37
NC_000017.9:g.59263435C>G	NCBI36
NG_053004.1:g.15649G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2470G>C
ENST00000697953.1:n.3043G>C
ENST00000698013.1:n.3155G>C
ENST00000698014.1:n.3378G>C
ENST00000698015.1:n.2471G>C
ENST00000698016.1:c.*595G>C	ENSP00000513502.1:n.*595G>C
ENST00000698017.1:n.2545G>C
ENST00000698018.1:n.2676G>C
ENST00000698019.1:n.2874G>C
ENST00000698020.1:n.1980G>C
ENST00000698021.1:c.1889G>C
ENST00000698022.1:c.*595G>C	ENSP00000513504.1:n.*595G>C
ENST00000698023.1:n.2574G>C
ENST00000698024.1:n.2436G>C
ENST00000698025.1:n.2596G>C
ENST00000698026.1:n.1487G>C
ENST00000698027.1:c.*812G>C	ENSP00000513505.1:n.*812G>C
ENST00000698028.1:n.2679G>C
ENST00000698029.1:n.3408G>C
ENST00000448276.7:c.*595G>C MANE Select	ENSP00000392617.2:n.*595G>C
ENST00000448276.6:c.*595G>C	ENSP00000392617.2:n.*595G>C
ENST00000613943.4:c.2080G>C	ENSP00000483605.1:n.2080G>C
NM_001098426.1:c.*595G>C	NP_001091896.1:n.*595G>C
XM_005257604.2:c.*595G>C	XP_005257661.2:n.*595G>C
NM_001330439.1:c.*595G>C	NP_001317368.1:n.*595G>C
NM_001330440.1:c.*595G>C	NP_001317369.1:n.*595G>C
NM_001098426.2:c.*595G>C MANE Select	NP_001091896.1:n.*595G>C
NM_001330440.2:c.*595G>C	NP_001317369.1:n.*595G>C