Canonical Allele Identifier: CA2639298100

Gene: SMARCD2

Linked Data

• gnomAD v4: 17-63832194-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832194C>A , CM000679.2:g.63832194C>A	GRCh38
NC_000017.10:g.61909554C>A , CM000679.1:g.61909554C>A	GRCh37
NC_000017.9:g.59263286C>A	NCBI36
NG_053004.1:g.15798G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2619G>T
ENST00000697953.1:n.3192G>T
ENST00000698013.1:n.3304G>T
ENST00000698014.1:n.3527G>T
ENST00000698015.1:n.2620G>T
ENST00000698016.1:c.*744G>T	ENSP00000513502.1:n.*744G>T
ENST00000698017.1:n.2694G>T
ENST00000698018.1:n.2825G>T
ENST00000698019.1:n.3023G>T
ENST00000698020.1:n.2129G>T
ENST00000698021.1:c.2038G>T
ENST00000698022.1:c.*744G>T	ENSP00000513504.1:n.*744G>T
ENST00000698023.1:n.2723G>T
ENST00000698024.1:n.2585G>T
ENST00000698025.1:n.2745G>T
ENST00000698026.1:n.1636G>T
ENST00000698027.1:c.*961G>T	ENSP00000513505.1:n.*961G>T
ENST00000698028.1:n.2828G>T
ENST00000448276.7:c.*744G>T MANE Select	ENSP00000392617.2:n.*744G>T
ENST00000448276.6:c.*744G>T	ENSP00000392617.2:n.*744G>T
ENST00000613943.4:c.2229G>T	ENSP00000483605.1:n.2229G>T
NM_001098426.1:c.*744G>T	NP_001091896.1:n.*744G>T
XM_005257604.2:c.*744G>T	XP_005257661.2:n.*744G>T
NM_001330439.1:c.*744G>T	NP_001317368.1:n.*744G>T
NM_001330440.1:c.*744G>T	NP_001317369.1:n.*744G>T
NM_001098426.2:c.*744G>T MANE Select	NP_001091896.1:n.*744G>T
NM_001330440.2:c.*744G>T	NP_001317369.1:n.*744G>T