Canonical Allele Identifier: CA773992929

Gene: SMARCD2

Linked Data

• dbSNP Id: rs1416317431
• gnomAD v4: 17-63832126-G-A
• MyVariant Identifiers: chr17:g.61909486G>A (hg19) ; chr17:g.63832126G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832126G>A , CM000679.2:g.63832126G>A	GRCh38
NC_000017.10:g.61909486G>A , CM000679.1:g.61909486G>A	GRCh37
NC_000017.9:g.59263218G>A	NCBI36
NG_053004.1:g.15866C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000697953.1:n.3260C>T
ENST00000698013.1:n.3372C>T
ENST00000698014.1:n.3595C>T
ENST00000698015.1:n.2688C>T
ENST00000698016.1:c.*812C>T	ENSP00000513502.1:n.*812C>T
ENST00000698017.1:n.2762C>T
ENST00000698018.1:n.2893C>T
ENST00000698019.1:n.3091C>T
ENST00000698020.1:n.2197C>T
ENST00000698021.1:c.2106C>T
ENST00000698022.1:c.*812C>T	ENSP00000513504.1:n.*812C>T
ENST00000698023.1:n.2791C>T
ENST00000698024.1:n.2653C>T
ENST00000698025.1:n.2813C>T
ENST00000448276.7:c.*812C>T MANE Select	ENSP00000392617.2:n.*812C>T
ENST00000448276.6:c.*812C>T	ENSP00000392617.2:n.*812C>T
ENST00000613943.4:c.2297C>T	ENSP00000483605.1:n.2297C>T
NM_001098426.1:c.*812C>T	NP_001091896.1:n.*812C>T
XM_005257604.2:c.*812C>T	XP_005257661.2:n.*812C>T
NM_001330439.1:c.*812C>T	NP_001317368.1:n.*812C>T
NM_001330440.1:c.*812C>T	NP_001317369.1:n.*812C>T
NM_001098426.2:c.*812C>T MANE Select	NP_001091896.1:n.*812C>T
NM_001330440.2:c.*812C>T	NP_001317369.1:n.*812C>T