Canonical Allele Identifier: CA2639298129

Gene: SMARCD2

Linked Data

• gnomAD v4: 17-63832211-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832211_63832212insT , CM000679.2:g.63832211_63832212insT	GRCh38
NC_000017.10:g.61909571_61909572insT , CM000679.1:g.61909571_61909572insT	GRCh37
NC_000017.9:g.59263303_59263304insT	NCBI36
NG_053004.1:g.15780_15781insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2601_2602insA
ENST00000697953.1:n.3174_3175insA
ENST00000698013.1:n.3286_3287insA
ENST00000698014.1:n.3509_3510insA
ENST00000698015.1:n.2602_2603insA
ENST00000698016.1:c.*726_*727insA	ENSP00000513502.1:n.*726_*727insA
ENST00000698017.1:n.2676_2677insA
ENST00000698018.1:n.2807_2808insA
ENST00000698019.1:n.3005_3006insA
ENST00000698020.1:n.2111_2112insA
ENST00000698021.1:c.2020_2021insA
ENST00000698022.1:c.*726_*727insA	ENSP00000513504.1:n.*726_*727insA
ENST00000698023.1:n.2705_2706insA
ENST00000698024.1:n.2567_2568insA
ENST00000698025.1:n.2727_2728insA
ENST00000698026.1:n.1618_1619insA
ENST00000698027.1:c.*943_*944insA	ENSP00000513505.1:n.*943_*944insA
ENST00000698028.1:n.2810_2811insA
ENST00000448276.7:c.*726_*727insA MANE Select	ENSP00000392617.2:n.*726_*727insA
ENST00000448276.6:c.*726_*727insA	ENSP00000392617.2:n.*726_*727insA
ENST00000613943.4:c.2211_2212insA	ENSP00000483605.1:n.2211_2212insA
NM_001098426.1:c.*726_*727insA	NP_001091896.1:n.*726_*727insA
XM_005257604.2:c.*726_*727insA	XP_005257661.2:n.*726_*727insA
NM_001330439.1:c.*726_*727insA	NP_001317368.1:n.*726_*727insA
NM_001330440.1:c.*726_*727insA	NP_001317369.1:n.*726_*727insA
NM_001098426.2:c.*726_*727insA MANE Select	NP_001091896.1:n.*726_*727insA
NM_001330440.2:c.*726_*727insA	NP_001317369.1:n.*726_*727insA