Canonical Allele Identifier: CA760092838

Gene: SCN2A

Linked Data

• dbSNP Id: rs1471884952
• gnomAD v3: 2-165354099-TAAG-T
• gnomAD v4: 2-165354099-TAAG-T
• MyVariant Identifiers: chr2:g.166210610_166210612del (hg19) ; chr2:g.165354100_165354102del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165354100_165354102del , CM000664.2:g.165354100_165354102del	GRCh38
NC_000002.11:g.166210610_166210612del , CM000664.1:g.166210610_166210612del	GRCh37
NC_000002.10:g.165918856_165918858del	NCBI36
NG_008143.1:g.119699_119701del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000631182.3:c.2920-92_2920-90del MANE Plus Clinical	ENSP00000486885.1:n.2920-92_2920-90del
ENST00000375437.7:c.2920-92_2920-90del MANE Select	ENSP00000364586.2:n.2920-92_2920-90del
ENST00000636071.2:c.2920-92_2920-90del	ENSP00000490107.1:n.2920-92_2920-90del
ENST00000636135.1:c.*1239-92_*1239-90del	ENSP00000489821.1:n.*1239-92_*1239-90del
ENST00000636384.2:c.*907-92_*907-90del	ENSP00000490765.1:n.*907-92_*907-90del
ENST00000636662.2:c.*3443-92_*3443-90del	ENSP00000489873.1:n.*3443-92_*3443-90del
ENST00000636769.1:c.*862-92_*862-90del	ENSP00000490800.1:n.*862-92_*862-90del
ENST00000636985.2:c.2524-92_2524-90del	ENSP00000490849.1:n.2524-92_2524-90del
ENST00000637266.2:c.2920-92_2920-90del	ENSP00000490866.1:n.2920-92_2920-90del
ENST00000673831.1:c.666-92_666-90del	ENSP00000501305.1:n.666-92_666-90del
ENST00000673883.1:c.485-92_485-90del	ENSP00000501309.1:n.485-92_485-90del
ENST00000674133.1:c.771-92_771-90del
ENST00000283256.10:c.2920-92_2920-90del	ENSP00000283256.6:n.2920-92_2920-90del
ENST00000375427.4:c.2920-92_2920-90del	ENSP00000364576.2:n.2920-92_2920-90del
ENST00000375437.6:c.2920-92_2920-90del	ENSP00000364586.2:n.2920-92_2920-90del
ENST00000480032.4:n.3063-92_3063-90del
ENST00000631182.2:c.2920-92_2920-90del	ENSP00000486885.1:n.2920-92_2920-90del
NM_001040142.1:c.2920-92_2920-90del	NP_001035232.1:n.2920-92_2920-90del
NM_001040143.1:c.2920-92_2920-90del	NP_001035233.1:n.2920-92_2920-90del
NM_021007.2:c.2920-92_2920-90del	NP_066287.2:n.2920-92_2920-90del
XM_005246750.2:c.2920-92_2920-90del	XP_005246807.1:n.2920-92_2920-90del
XM_005246753.2:c.2920-92_2920-90del	XP_005246810.1:n.2920-92_2920-90del
XM_005246754.3:c.2890-92_2890-90del	XP_005246811.1:n.2890-92_2890-90del
XM_005246755.3:c.2167-92_2167-90del	XP_005246812.1:n.2167-92_2167-90del
XM_011511608.1:c.2920-92_2920-90del	XP_011509910.1:n.2920-92_2920-90del
XM_011511609.1:c.2920-92_2920-90del	XP_011509911.1:n.2920-92_2920-90del
XM_005246753.3:c.2920-92_2920-90del	XP_005246810.1:n.2920-92_2920-90del
XM_017004656.1:c.2920-92_2920-90del	XP_016860145.1:n.2920-92_2920-90del
XM_017004657.1:c.2920-92_2920-90del	XP_016860146.1:n.2920-92_2920-90del
XM_017004658.1:c.2167-92_2167-90del	XP_016860147.1:n.2167-92_2167-90del
XM_017004659.1:c.718-92_718-90del	XP_016860148.1:n.718-92_718-90del
XM_024453037.1:c.2167-92_2167-90del	XP_024308805.1:n.2167-92_2167-90del
NM_001040142.2:c.2920-92_2920-90del MANE Select	NP_001035232.1:n.2920-92_2920-90del
NM_001040143.2:c.2920-92_2920-90del	NP_001035233.1:n.2920-92_2920-90del
NM_001371246.1:c.2920-92_2920-90del MANE Plus Clinical	NP_001358175.1:n.2920-92_2920-90del
NM_001371247.1:c.2920-92_2920-90del	NP_001358176.1:n.2920-92_2920-90del
NM_021007.3:c.2920-92_2920-90del	NP_066287.2:n.2920-92_2920-90del