Canonical Allele Identifier: CA596168970

Gene: SLC18A2

Linked Data

• dbSNP Id: rs1413619741
• gnomAD v2: 10-119022597-G-A
• gnomAD v3: 10-117263086-G-A
• gnomAD v4: 10-117263086-G-A
• MyVariant Identifiers: chr10:g.119022597G>A (hg19) ; chr10:g.117263086G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.117263086G>A , CM000672.2:g.117263086G>A	GRCh38
NC_000010.10:g.119022597G>A , CM000672.1:g.119022597G>A	GRCh37
NC_000010.9:g.119012587G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000644641.2:c.992-3647G>A MANE Select	ENSP00000496339.1:n.992-3647G>A
ENST00000298472.9:c.992-3647G>A	ENSP00000298472.5:n.992-3647G>A
ENST00000497497.1:n.1408-3647G>A
NM_003054.4:c.992-3647G>A	NP_003045.2:n.992-3647G>A
NM_003054.5:c.992-3647G>A	NP_003045.2:n.992-3647G>A
NM_003054.6:c.992-3647G>A MANE Select	NP_003045.2:n.992-3647G>A