Canonical Allele Identifier: CA985416038

Gene: SMARCD2

Linked Data

• dbSNP Id: rs2040198445
• gnomAD v3: 17-63832135-G-GCCAAGCCCTAGGCCCACCCT
• gnomAD v4: 17-63832135-G-GCCAAGCCCTAGGCCCACCCT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832138_63832157dup , CM000679.2:g.63832138_63832157dup	GRCh38
NC_000017.10:g.61909498_61909517dup , CM000679.1:g.61909498_61909517dup	GRCh37
NC_000017.9:g.59263230_59263249dup	NCBI36
NG_053004.1:g.15837_15856dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000697953.1:n.3231_3250dup
ENST00000698013.1:n.3343_3362dup
ENST00000698014.1:n.3566_3585dup
ENST00000698015.1:n.2659_2678dup
ENST00000698016.1:c.*783_*802dup	ENSP00000513502.1:n.*783_*802dup
ENST00000698017.1:n.2733_2752dup
ENST00000698018.1:n.2864_2883dup
ENST00000698019.1:n.3062_3081dup
ENST00000698020.1:n.2168_2187dup
ENST00000698021.1:c.2077_2096dup
ENST00000698022.1:c.*783_*802dup	ENSP00000513504.1:n.*783_*802dup
ENST00000698023.1:n.2762_2781dup
ENST00000698024.1:n.2624_2643dup
ENST00000698025.1:n.2784_2803dup
ENST00000698026.1:n.1675_1694dup
ENST00000698027.1:c.*1000_*1019dup	ENSP00000513505.1:n.*1000_*1019dup
ENST00000448276.7:c.*783_*802dup MANE Select	ENSP00000392617.2:n.*783_*802dup
ENST00000448276.6:c.*783_*802dup	ENSP00000392617.2:n.*783_*802dup
ENST00000613943.4:c.2268_2287dup	ENSP00000483605.1:n.2268_2287dup
NM_001098426.1:c.*783_*802dup	NP_001091896.1:n.*783_*802dup
XM_005257604.2:c.*783_*802dup	XP_005257661.2:n.*783_*802dup
NM_001330439.1:c.*783_*802dup	NP_001317368.1:n.*783_*802dup
NM_001330440.1:c.*783_*802dup	NP_001317369.1:n.*783_*802dup
NM_001098426.2:c.*783_*802dup MANE Select	NP_001091896.1:n.*783_*802dup
NM_001330440.2:c.*783_*802dup	NP_001317369.1:n.*783_*802dup