Canonical Allele Identifier: CA2639298059

Gene: SMARCD2

Linked Data

• gnomAD v4: 17-63832165-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832165G>A , CM000679.2:g.63832165G>A	GRCh38
NC_000017.10:g.61909525G>A , CM000679.1:g.61909525G>A	GRCh37
NC_000017.9:g.59263257G>A	NCBI36
NG_053004.1:g.15827C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2648C>T
ENST00000697953.1:n.3221C>T
ENST00000698013.1:n.3333C>T
ENST00000698014.1:n.3556C>T
ENST00000698015.1:n.2649C>T
ENST00000698016.1:c.*773C>T	ENSP00000513502.1:n.*773C>T
ENST00000698017.1:n.2723C>T
ENST00000698018.1:n.2854C>T
ENST00000698019.1:n.3052C>T
ENST00000698020.1:n.2158C>T
ENST00000698021.1:c.2067C>T
ENST00000698022.1:c.*773C>T	ENSP00000513504.1:n.*773C>T
ENST00000698023.1:n.2752C>T
ENST00000698024.1:n.2614C>T
ENST00000698025.1:n.2774C>T
ENST00000698026.1:n.1665C>T
ENST00000698027.1:c.*990C>T	ENSP00000513505.1:n.*990C>T
ENST00000448276.7:c.*773C>T MANE Select	ENSP00000392617.2:n.*773C>T
ENST00000448276.6:c.*773C>T	ENSP00000392617.2:n.*773C>T
ENST00000613943.4:c.2258C>T	ENSP00000483605.1:n.2258C>T
NM_001098426.1:c.*773C>T	NP_001091896.1:n.*773C>T
XM_005257604.2:c.*773C>T	XP_005257661.2:n.*773C>T
NM_001330439.1:c.*773C>T	NP_001317368.1:n.*773C>T
NM_001330440.1:c.*773C>T	NP_001317369.1:n.*773C>T
NM_001098426.2:c.*773C>T MANE Select	NP_001091896.1:n.*773C>T
NM_001330440.2:c.*773C>T	NP_001317369.1:n.*773C>T