Canonical Allele Identifier: CA398843994

Gene: STAC2

Linked Data

• gnomAD v4: 17-39217922-C-A
• MyVariant Identifiers: chr17:g.37374175C>A (hg19) ; chr17:g.39217922C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39217922C>A , CM000679.2:g.39217922C>A	GRCh38
NC_000017.10:g.37374175C>A , CM000679.1:g.37374175C>A	GRCh37
NC_000017.9:g.34627701C>A	NCBI36
NG_054936.1:g.12866G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333461.6:c.342G>T MANE Select	ENSP00000327509.5:p.Gln114His
ENST00000333461.5:c.342G>T	ENSP00000327509.5:p.Gln114His
ENST00000584501.1:c.195+147G>T	ENSP00000463299.1:n.195+147G>T
NM_198993.3:c.342G>T	NP_945344.1:p.Gln114His
NM_001351360.1:c.-30+147G>T	NP_001338289.1:n.-30+147G>T
NM_198993.4:c.342G>T	NP_945344.1:p.Gln114His
XM_017024580.1:c.342G>T	XP_016880069.1:p.Gln114His
XM_017024581.1:c.342G>T	XP_016880070.1:p.Gln114His
XM_017024583.1:c.342G>T	XP_016880072.1:p.Gln114His
XR_002957997.1:n.627G>T
NM_198993.5:c.342G>T MANE Select	NP_945344.1:p.Gln114His
NM_001351360.2:c.-30+147G>T	NP_001338289.1:n.-30+147G>T