Canonical Allele Identifier: CA2639298335

Gene: SMARCD2

Linked Data

• gnomAD v4: 17-63832423-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832423G>T , CM000679.2:g.63832423G>T	GRCh38
NC_000017.10:g.61909783G>T , CM000679.1:g.61909783G>T	GRCh37
NC_000017.9:g.59263515G>T	NCBI36
NG_053004.1:g.15569C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2390C>A
ENST00000697953.1:n.2963C>A
ENST00000698013.1:n.3075C>A
ENST00000698014.1:n.3298C>A
ENST00000698015.1:n.2391C>A
ENST00000698016.1:c.*515C>A	ENSP00000513502.1:n.*515C>A
ENST00000698017.1:n.2465C>A
ENST00000698018.1:n.2596C>A
ENST00000698019.1:n.2794C>A
ENST00000698020.1:n.1900C>A
ENST00000698021.1:c.1809C>A
ENST00000698022.1:c.*515C>A	ENSP00000513504.1:n.*515C>A
ENST00000698023.1:n.2494C>A
ENST00000698024.1:n.2356C>A
ENST00000698025.1:n.2516C>A
ENST00000698026.1:n.1407C>A
ENST00000698027.1:c.*732C>A	ENSP00000513505.1:n.*732C>A
ENST00000698028.1:n.2599C>A
ENST00000698029.1:n.3328C>A
ENST00000448276.7:c.*515C>A MANE Select	ENSP00000392617.2:n.*515C>A
ENST00000448276.6:c.*515C>A	ENSP00000392617.2:n.*515C>A
ENST00000613943.4:c.2000C>A	ENSP00000483605.1:n.2000C>A
NM_001098426.1:c.*515C>A	NP_001091896.1:n.*515C>A
XM_005257604.2:c.*515C>A	XP_005257661.2:n.*515C>A
NM_001330439.1:c.*515C>A	NP_001317368.1:n.*515C>A
NM_001330440.1:c.*515C>A	NP_001317369.1:n.*515C>A
NM_001098426.2:c.*515C>A MANE Select	NP_001091896.1:n.*515C>A
NM_001330440.2:c.*515C>A	NP_001317369.1:n.*515C>A