Canonical Allele Identifier: CA279843
Gene: STAC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 208390
ClinVar RCV Id: RCV000202325
dbSNP Id: rs863223351

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39218007C>T , CM000679.2:g.39218007C>T GRCh38
NC_000017.10:g.37374260C>T , CM000679.1:g.37374260C>T GRCh37
NC_000017.9:g.34627786C>T NCBI36
NG_054936.1:g.12781G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000333461.6:c.257G>A MANE Select ENSP00000327509.5:p.Arg86Lys
ENST00000333461.5:c.257G>A ENSP00000327509.5:p.Arg86Lys
ENST00000584501.1:c.195+62G>A ENSP00000463299.1:n.195+62G>A
NM_198993.3:c.257G>A NP_945344.1:p.Arg86Lys
NM_001351360.1:c.-30+62G>A NP_001338289.1:n.-30+62G>A
NM_198993.4:c.257G>A NP_945344.1:p.Arg86Lys
XM_017024580.1:c.257G>A XP_016880069.1:p.Arg86Lys
XM_017024581.1:c.257G>A XP_016880070.1:p.Arg86Lys
XM_017024583.1:c.257G>A XP_016880072.1:p.Arg86Lys
XR_002957997.1:n.542G>A
NM_198993.5:c.257G>A MANE Select NP_945344.1:p.Arg86Lys
NM_001351360.2:c.-30+62G>A NP_001338289.1:n.-30+62G>A