Canonical Allele Identifier: CA2639298415

Gene: SMARCD2

Linked Data

• gnomAD v4: 17-63832510-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832510G>T , CM000679.2:g.63832510G>T	GRCh38
NC_000017.10:g.61909870G>T , CM000679.1:g.61909870G>T	GRCh37
NC_000017.9:g.59263602G>T	NCBI36
NG_053004.1:g.15482C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2303C>A
ENST00000697953.1:n.2876C>A
ENST00000698013.1:n.2988C>A
ENST00000698014.1:n.3211C>A
ENST00000698015.1:n.2304C>A
ENST00000698016.1:c.*428C>A	ENSP00000513502.1:n.*428C>A
ENST00000698017.1:n.2378C>A
ENST00000698018.1:n.2509C>A
ENST00000698019.1:n.2707C>A
ENST00000698020.1:n.1813C>A
ENST00000698021.1:c.1722C>A
ENST00000698022.1:c.*428C>A	ENSP00000513504.1:n.*428C>A
ENST00000698023.1:n.2407C>A
ENST00000698024.1:n.2269C>A
ENST00000698025.1:n.2429C>A
ENST00000698026.1:n.1320C>A
ENST00000698027.1:c.*645C>A	ENSP00000513505.1:n.*645C>A
ENST00000698028.1:n.2512C>A
ENST00000698029.1:n.3241C>A
ENST00000448276.7:c.*428C>A MANE Select	ENSP00000392617.2:n.*428C>A
ENST00000323347.14:c.*428C>A	ENSP00000318451.10:n.*428C>A
ENST00000448276.6:c.*428C>A	ENSP00000392617.2:n.*428C>A
ENST00000613943.4:c.1913C>A	ENSP00000483605.1:n.1913C>A
NM_001098426.1:c.*428C>A	NP_001091896.1:n.*428C>A
XM_005257604.2:c.*428C>A	XP_005257661.2:n.*428C>A
NM_001330439.1:c.*428C>A	NP_001317368.1:n.*428C>A
NM_001330440.1:c.*428C>A	NP_001317369.1:n.*428C>A
NM_001098426.2:c.*428C>A MANE Select	NP_001091896.1:n.*428C>A
NM_001330440.2:c.*428C>A	NP_001317369.1:n.*428C>A