Canonical Allele Identifier: CA985416057

Gene: SMARCD2

Linked Data

• dbSNP Id: rs2040199636
• gnomAD v3: 17-63832210-A-T
• gnomAD v4: 17-63832210-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832210A>T , CM000679.2:g.63832210A>T	GRCh38
NC_000017.10:g.61909570A>T , CM000679.1:g.61909570A>T	GRCh37
NC_000017.9:g.59263302A>T	NCBI36
NG_053004.1:g.15782T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2603T>A
ENST00000697953.1:n.3176T>A
ENST00000698013.1:n.3288T>A
ENST00000698014.1:n.3511T>A
ENST00000698015.1:n.2604T>A
ENST00000698016.1:c.*728T>A	ENSP00000513502.1:n.*728T>A
ENST00000698017.1:n.2678T>A
ENST00000698018.1:n.2809T>A
ENST00000698019.1:n.3007T>A
ENST00000698020.1:n.2113T>A
ENST00000698021.1:c.2022T>A
ENST00000698022.1:c.*728T>A	ENSP00000513504.1:n.*728T>A
ENST00000698023.1:n.2707T>A
ENST00000698024.1:n.2569T>A
ENST00000698025.1:n.2729T>A
ENST00000698026.1:n.1620T>A
ENST00000698027.1:c.*945T>A	ENSP00000513505.1:n.*945T>A
ENST00000698028.1:n.2812T>A
ENST00000448276.7:c.*728T>A MANE Select	ENSP00000392617.2:n.*728T>A
ENST00000448276.6:c.*728T>A	ENSP00000392617.2:n.*728T>A
ENST00000613943.4:c.2213T>A	ENSP00000483605.1:n.2213T>A
NM_001098426.1:c.*728T>A	NP_001091896.1:n.*728T>A
XM_005257604.2:c.*728T>A	XP_005257661.2:n.*728T>A
NM_001330439.1:c.*728T>A	NP_001317368.1:n.*728T>A
NM_001330440.1:c.*728T>A	NP_001317369.1:n.*728T>A
NM_001098426.2:c.*728T>A MANE Select	NP_001091896.1:n.*728T>A
NM_001330440.2:c.*728T>A	NP_001317369.1:n.*728T>A