Canonical Allele Identifier: CA2639298439

Gene: SMARCD2

Linked Data

• gnomAD v4: 17-63832534-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832534G>T , CM000679.2:g.63832534G>T	GRCh38
NC_000017.10:g.61909894G>T , CM000679.1:g.61909894G>T	GRCh37
NC_000017.9:g.59263626G>T	NCBI36
NG_053004.1:g.15458C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2279C>A
ENST00000697953.1:n.2852C>A
ENST00000698013.1:n.2964C>A
ENST00000698014.1:n.3187C>A
ENST00000698015.1:n.2280C>A
ENST00000698016.1:c.*404C>A	ENSP00000513502.1:n.*404C>A
ENST00000698017.1:n.2354C>A
ENST00000698018.1:n.2485C>A
ENST00000698019.1:n.2683C>A
ENST00000698020.1:n.1789C>A
ENST00000698021.1:c.1698C>A
ENST00000698022.1:c.*404C>A	ENSP00000513504.1:n.*404C>A
ENST00000698023.1:n.2383C>A
ENST00000698024.1:n.2245C>A
ENST00000698025.1:n.2405C>A
ENST00000698026.1:n.1296C>A
ENST00000698027.1:c.*621C>A	ENSP00000513505.1:n.*621C>A
ENST00000698028.1:n.2488C>A
ENST00000698029.1:n.3217C>A
ENST00000448276.7:c.*404C>A MANE Select	ENSP00000392617.2:n.*404C>A
ENST00000323347.14:c.*404C>A	ENSP00000318451.10:n.*404C>A
ENST00000448276.6:c.*404C>A	ENSP00000392617.2:n.*404C>A
ENST00000613943.4:c.1889C>A	ENSP00000483605.1:n.1889C>A
NM_001098426.1:c.*404C>A	NP_001091896.1:n.*404C>A
XM_005257604.2:c.*404C>A	XP_005257661.2:n.*404C>A
NM_001330439.1:c.*404C>A	NP_001317368.1:n.*404C>A
NM_001330440.1:c.*404C>A	NP_001317369.1:n.*404C>A
NM_001098426.2:c.*404C>A MANE Select	NP_001091896.1:n.*404C>A
NM_001330440.2:c.*404C>A	NP_001317369.1:n.*404C>A