Canonical Allele Identifier: CA2138034

Gene: SCG2

Linked Data

• ClinVar Variation Id: 3158387
• ClinVar RCV Id: RCV004452777
• dbSNP Id: rs369421454
• ExAC: 2:224462947 T / C
• gnomAD v2: 2-224462947-T-C
• gnomAD v3: 2-223598229-T-C
• gnomAD v4: 2-223598229-T-C
• MyVariant Identifiers: chr2:g.224462947T>C (hg19) ; chr2:g.223598229T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.223598229T>C , CM000664.2:g.223598229T>C	GRCh38
NC_000002.11:g.224462947T>C , CM000664.1:g.224462947T>C	GRCh37
NC_000002.10:g.224171191T>C	NCBI36
NG_027998.1:g.9271A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305409.3:c.1054A>G MANE Select	ENSP00000304133.2:p.Ile352Val
ENST00000305409.2:c.1054A>G	ENSP00000304133.2:p.Ile352Val
NM_003469.4:c.1054A>G	NP_003460.2:p.Ile352Val
NM_003469.5:c.1054A>G MANE Select	NP_003460.2:p.Ile352Val