Canonical Allele Identifier: CA16044310

Gene: SCN2A

Linked Data

• ClinVar Variation Id: 375506
• ClinVar RCV Id: RCV000417035 ; RCV002521495
• dbSNP Id: rs1057519524
• MyVariant Identifiers: chr2:g.166243347T>C (hg19) ; chr2:g.165386837T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165386837T>C , CM000664.2:g.165386837T>C	GRCh38
NC_000002.11:g.166243347T>C , CM000664.1:g.166243347T>C	GRCh37
NC_000002.10:g.165951593T>C	NCBI36
NG_008143.1:g.152436T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000631182.3:c.4643T>C MANE Plus Clinical	ENSP00000486885.1:p.Met1548Thr
ENST00000375437.7:c.4643T>C MANE Select	ENSP00000364586.2:p.Met1548Thr
ENST00000636071.2:c.4643T>C	ENSP00000490107.1:p.Met1548Thr
ENST00000636135.1:c.*2962T>C	ENSP00000489821.1:n.*2962T>C
ENST00000636384.2:c.*2630T>C	ENSP00000490765.1:n.*2630T>C
ENST00000636662.2:c.*5166T>C	ENSP00000489873.1:n.*5166T>C
ENST00000636769.1:c.*2585T>C	ENSP00000490800.1:n.*2585T>C
ENST00000636985.2:c.4247T>C	ENSP00000490849.1:p.Met1416Thr
ENST00000637266.2:c.4643T>C	ENSP00000490866.1:p.Met1548Thr
ENST00000283256.10:c.4643T>C	ENSP00000283256.6:p.Met1548Thr
ENST00000375427.4:c.4643T>C	ENSP00000364576.2:p.Met1548Thr
ENST00000375437.6:c.4643T>C	ENSP00000364586.2:p.Met1548Thr
ENST00000480032.4:n.8074T>C
ENST00000631182.2:c.4643T>C	ENSP00000486885.1:p.Met1548Thr
NM_001040142.1:c.4643T>C	NP_001035232.1:p.Met1548Thr
NM_001040143.1:c.4643T>C	NP_001035233.1:p.Met1548Thr
NM_021007.2:c.4643T>C	NP_066287.2:p.Met1548Thr
XM_005246750.2:c.4643T>C	XP_005246807.1:p.Met1548Thr
XM_005246753.2:c.4643T>C	XP_005246810.1:p.Met1548Thr
XM_005246754.3:c.4613T>C	XP_005246811.1:p.Met1538Thr
XM_005246755.3:c.3890T>C	XP_005246812.1:p.Met1297Thr
XM_011511608.1:c.4643T>C	XP_011509910.1:p.Met1548Thr
XM_011511609.1:c.4643T>C	XP_011509911.1:p.Met1548Thr
XM_005246753.3:c.4643T>C	XP_005246810.1:p.Met1548Thr
XM_017004656.1:c.4643T>C	XP_016860145.1:p.Met1548Thr
XM_017004657.1:c.4643T>C	XP_016860146.1:p.Met1548Thr
XM_017004658.1:c.3890T>C	XP_016860147.1:p.Met1297Thr
XM_017004659.1:c.2441T>C	XP_016860148.1:p.Met814Thr
XM_024453037.1:c.3890T>C	XP_024308805.1:p.Met1297Thr
NM_001040142.2:c.4643T>C MANE Select	NP_001035232.1:p.Met1548Thr
NM_001040143.2:c.4643T>C	NP_001035233.1:p.Met1548Thr
NM_001371246.1:c.4643T>C MANE Plus Clinical	NP_001358175.1:p.Met1548Thr
NM_001371247.1:c.4643T>C	NP_001358176.1:p.Met1548Thr
NM_021007.3:c.4643T>C	NP_066287.2:p.Met1548Thr