Canonical Allele Identifier: CA398843957

Gene: STAC2

Linked Data

• gnomAD v4: 17-39217914-A-T
• MyVariant Identifiers: chr17:g.37374167A>T (hg19) ; chr17:g.39217914A>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333461.6:c.350T>A MANE Select	ENSP00000327509.5:p.Val117Asp
ENST00000333461.5:c.350T>A	ENSP00000327509.5:p.Val117Asp
ENST00000584501.1:c.195+155T>A	ENSP00000463299.1:n.195+155T>A
NM_198993.3:c.350T>A	NP_945344.1:p.Val117Asp
NM_001351360.1:c.-30+155T>A	NP_001338289.1:n.-30+155T>A
NM_198993.4:c.350T>A	NP_945344.1:p.Val117Asp
XM_017024580.1:c.350T>A	XP_016880069.1:p.Val117Asp
XM_017024581.1:c.350T>A	XP_016880070.1:p.Val117Asp
XM_017024583.1:c.350T>A	XP_016880072.1:p.Val117Asp
XR_002957997.1:n.635T>A
NM_198993.5:c.350T>A MANE Select	NP_945344.1:p.Val117Asp
NM_001351360.2:c.-30+155T>A	NP_001338289.1:n.-30+155T>A