Canonical Allele Identifier: CA346209825

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27598010C>G (hg19) ; chr2:g.27375143C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375143C>G , CM000664.2:g.27375143C>G	GRCh38
NC_000002.11:g.27598010C>G , CM000664.1:g.27598010C>G	GRCh37
NC_000002.10:g.27451514C>G	NCBI36
NG_009305.1:g.315G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.764C>G MANE Select	ENSP00000233575.2:p.Ser255Cys
ENST00000233575.6:c.764C>G	ENSP00000233575.2:p.Ser255Cys
ENST00000427123.5:c.*574C>G	ENSP00000405399.1:n.*574C>G
ENST00000440760.5:c.*609C>G	ENSP00000399727.1:n.*609C>G
ENST00000453453.1:c.*291C>G	ENSP00000401922.1:n.*291C>G
ENST00000493711.1:n.481C>G
ENST00000494893.5:n.940C>G
ENST00000537606.5:c.689C>G	ENSP00000439208.1:p.Ser230Cys
NM_001267059.1:c.728C>G	NP_001253988.1:p.Ser243Cys
NM_001267060.1:c.689C>G	NP_001253989.1:p.Ser230Cys
NM_001267061.1:c.704C>G	NP_001253990.1:p.Ser235Cys
NM_014748.3:c.764C>G	NP_055563.1:p.Ser255Cys
NR_049782.1:n.1137C>G
NR_049783.1:n.1110C>G
NR_049784.1:n.1086C>G
NR_049785.1:n.1019C>G
NR_049786.1:n.968C>G
NR_049787.1:n.819C>G
NR_049788.1:n.749C>G
XM_011533203.1:c.122C>G	XP_011531505.1:p.Ser41Cys
XM_011533203.2:c.122C>G	XP_011531505.1:p.Ser41Cys
XM_017005405.2:c.122C>G	XP_016860894.1:p.Ser41Cys
NM_014748.4:c.764C>G MANE Select	NP_055563.1:p.Ser255Cys
NM_001267059.2:c.728C>G	NP_001253988.1:p.Ser243Cys
NM_001267061.2:c.704C>G	NP_001253990.1:p.Ser235Cys
NR_049782.2:n.1017C>G
NR_049783.2:n.990C>G
NR_049784.2:n.966C>G
NR_049785.2:n.899C>G
NR_049786.2:n.848C>G
NR_049787.2:n.699C>G
NR_049788.2:n.629C>G
NM_001267060.2:c.689C>G	NP_001253989.1:p.Ser230Cys