Canonical Allele Identifier: CA2639298343

Gene: SMARCD2

Linked Data

• gnomAD v4: 17-63832434-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832434G>T , CM000679.2:g.63832434G>T	GRCh38
NC_000017.10:g.61909794G>T , CM000679.1:g.61909794G>T	GRCh37
NC_000017.9:g.59263526G>T	NCBI36
NG_053004.1:g.15558C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2379C>A
ENST00000697953.1:n.2952C>A
ENST00000698013.1:n.3064C>A
ENST00000698014.1:n.3287C>A
ENST00000698015.1:n.2380C>A
ENST00000698016.1:c.*504C>A	ENSP00000513502.1:n.*504C>A
ENST00000698017.1:n.2454C>A
ENST00000698018.1:n.2585C>A
ENST00000698019.1:n.2783C>A
ENST00000698020.1:n.1889C>A
ENST00000698021.1:c.1798C>A
ENST00000698022.1:c.*504C>A	ENSP00000513504.1:n.*504C>A
ENST00000698023.1:n.2483C>A
ENST00000698024.1:n.2345C>A
ENST00000698025.1:n.2505C>A
ENST00000698026.1:n.1396C>A
ENST00000698027.1:c.*721C>A	ENSP00000513505.1:n.*721C>A
ENST00000698028.1:n.2588C>A
ENST00000698029.1:n.3317C>A
ENST00000448276.7:c.*504C>A MANE Select	ENSP00000392617.2:n.*504C>A
ENST00000448276.6:c.*504C>A	ENSP00000392617.2:n.*504C>A
ENST00000613943.4:c.1989C>A	ENSP00000483605.1:n.1989C>A
NM_001098426.1:c.*504C>A	NP_001091896.1:n.*504C>A
XM_005257604.2:c.*504C>A	XP_005257661.2:n.*504C>A
NM_001330439.1:c.*504C>A	NP_001317368.1:n.*504C>A
NM_001330440.1:c.*504C>A	NP_001317369.1:n.*504C>A
NM_001098426.2:c.*504C>A MANE Select	NP_001091896.1:n.*504C>A
NM_001330440.2:c.*504C>A	NP_001317369.1:n.*504C>A