Canonical Allele Identifier: CA398843955
Gene: STAC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39217914A>G , CM000679.2:g.39217914A>G GRCh38
NC_000017.10:g.37374167A>G , CM000679.1:g.37374167A>G GRCh37
NC_000017.9:g.34627693A>G NCBI36
NG_054936.1:g.12874T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000333461.6:c.350T>C MANE Select ENSP00000327509.5:p.Val117Ala
ENST00000333461.5:c.350T>C ENSP00000327509.5:p.Val117Ala
ENST00000584501.1:c.195+155T>C ENSP00000463299.1:n.195+155T>C
NM_198993.3:c.350T>C NP_945344.1:p.Val117Ala
NM_001351360.1:c.-30+155T>C NP_001338289.1:n.-30+155T>C
NM_198993.4:c.350T>C NP_945344.1:p.Val117Ala
XM_017024580.1:c.350T>C XP_016880069.1:p.Val117Ala
XM_017024581.1:c.350T>C XP_016880070.1:p.Val117Ala
XM_017024583.1:c.350T>C XP_016880072.1:p.Val117Ala
XR_002957997.1:n.635T>C
NM_198993.5:c.350T>C MANE Select NP_945344.1:p.Val117Ala
NM_001351360.2:c.-30+155T>C NP_001338289.1:n.-30+155T>C