Canonical Allele Identifier: CA2546742744
Gene: SLC18A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.117263052_117263053insTATTTATTTTTAGAGA , CM000672.2:g.117263052_117263053insTATTTATTTTTAGAGA GRCh38
NC_000010.10:g.119022563_119022564insTATTTATTTTTAGAGA , CM000672.1:g.119022563_119022564insTATTTATTTTTAGAGA GRCh37
NC_000010.9:g.119012553_119012554insTATTTATTTTTAGAGA NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000644641.2:c.992-3681_992-3680insTATTTATTTTTAGAGA MANE Select ENSP00000496339.1:n.992-3681_992-3680insTATTTATTTTTAGAGA
ENST00000298472.9:c.992-3681_992-3680insTATTTATTTTTAGAGA ENSP00000298472.5:n.992-3681_992-3680insTATTTATTTTTAGAGA
ENST00000497497.1:n.1408-3681_1408-3680insTATTTATTTTTAGAGA
NM_003054.4:c.992-3681_992-3680insTATTTATTTTTAGAGA NP_003045.2:n.992-3681_992-3680insTATTTATTTTTAGAGA
NM_003054.5:c.992-3681_992-3680insTATTTATTTTTAGAGA NP_003045.2:n.992-3681_992-3680insTATTTATTTTTAGAGA
NM_003054.6:c.992-3681_992-3680insTATTTATTTTTAGAGA MANE Select NP_003045.2:n.992-3681_992-3680insTATTTATTTTTAGAGA