Canonical Allele Identifier: CA398843972
Gene: STAC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39217917T>G , CM000679.2:g.39217917T>G GRCh38
NC_000017.10:g.37374170T>G , CM000679.1:g.37374170T>G GRCh37
NC_000017.9:g.34627696T>G NCBI36
NG_054936.1:g.12871A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000333461.6:c.347A>C MANE Select ENSP00000327509.5:p.His116Pro
ENST00000333461.5:c.347A>C ENSP00000327509.5:p.His116Pro
ENST00000584501.1:c.195+152A>C ENSP00000463299.1:n.195+152A>C
NM_198993.3:c.347A>C NP_945344.1:p.His116Pro
NM_001351360.1:c.-30+152A>C NP_001338289.1:n.-30+152A>C
NM_198993.4:c.347A>C NP_945344.1:p.His116Pro
XM_017024580.1:c.347A>C XP_016880069.1:p.His116Pro
XM_017024581.1:c.347A>C XP_016880070.1:p.His116Pro
XM_017024583.1:c.347A>C XP_016880072.1:p.His116Pro
XR_002957997.1:n.632A>C
NM_198993.5:c.347A>C MANE Select NP_945344.1:p.His116Pro
NM_001351360.2:c.-30+152A>C NP_001338289.1:n.-30+152A>C