Canonical Allele Identifier: CA2639297992

Gene: SMARCD2

Linked Data

• gnomAD v4: 17-63832127-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832127T>A , CM000679.2:g.63832127T>A	GRCh38
NC_000017.10:g.61909487T>A , CM000679.1:g.61909487T>A	GRCh37
NC_000017.9:g.59263219T>A	NCBI36
NG_053004.1:g.15865A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697953.1:n.3259A>T
ENST00000698013.1:n.3371A>T
ENST00000698014.1:n.3594A>T
ENST00000698015.1:n.2687A>T
ENST00000698016.1:c.*811A>T	ENSP00000513502.1:n.*811A>T
ENST00000698017.1:n.2761A>T
ENST00000698018.1:n.2892A>T
ENST00000698019.1:n.3090A>T
ENST00000698020.1:n.2196A>T
ENST00000698021.1:c.2105A>T
ENST00000698022.1:c.*811A>T	ENSP00000513504.1:n.*811A>T
ENST00000698023.1:n.2790A>T
ENST00000698024.1:n.2652A>T
ENST00000698025.1:n.2812A>T
ENST00000448276.7:c.*811A>T MANE Select	ENSP00000392617.2:n.*811A>T
ENST00000448276.6:c.*811A>T	ENSP00000392617.2:n.*811A>T
ENST00000613943.4:c.2296A>T	ENSP00000483605.1:n.2296A>T
NM_001098426.1:c.*811A>T	NP_001091896.1:n.*811A>T
XM_005257604.2:c.*811A>T	XP_005257661.2:n.*811A>T
NM_001330439.1:c.*811A>T	NP_001317368.1:n.*811A>T
NM_001330440.1:c.*811A>T	NP_001317369.1:n.*811A>T
NM_001098426.2:c.*811A>T MANE Select	NP_001091896.1:n.*811A>T
NM_001330440.2:c.*811A>T	NP_001317369.1:n.*811A>T