Canonical Allele Identifier: CA346209785

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27597992C>G (hg19) ; chr2:g.27375125C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375125C>G , CM000664.2:g.27375125C>G	GRCh38
NC_000002.11:g.27597992C>G , CM000664.1:g.27597992C>G	GRCh37
NC_000002.10:g.27451496C>G	NCBI36
NG_009305.1:g.333G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.746C>G MANE Select	ENSP00000233575.2:p.Ser249Cys
ENST00000233575.6:c.746C>G	ENSP00000233575.2:p.Ser249Cys
ENST00000427123.5:c.*556C>G	ENSP00000405399.1:n.*556C>G
ENST00000440760.5:c.*591C>G	ENSP00000399727.1:n.*591C>G
ENST00000453453.1:c.*273C>G	ENSP00000401922.1:n.*273C>G
ENST00000493711.1:n.463C>G
ENST00000494893.5:n.922C>G
ENST00000537606.5:c.671C>G	ENSP00000439208.1:p.Ser224Cys
NM_001267059.1:c.710C>G	NP_001253988.1:p.Ser237Cys
NM_001267060.1:c.671C>G	NP_001253989.1:p.Ser224Cys
NM_001267061.1:c.686C>G	NP_001253990.1:p.Ser229Cys
NM_014748.3:c.746C>G	NP_055563.1:p.Ser249Cys
NR_049782.1:n.1119C>G
NR_049783.1:n.1092C>G
NR_049784.1:n.1068C>G
NR_049785.1:n.1001C>G
NR_049786.1:n.950C>G
NR_049787.1:n.801C>G
NR_049788.1:n.731C>G
XM_011533203.1:c.104C>G	XP_011531505.1:p.Ser35Cys
XM_011533203.2:c.104C>G	XP_011531505.1:p.Ser35Cys
XM_017005405.2:c.104C>G	XP_016860894.1:p.Ser35Cys
NM_014748.4:c.746C>G MANE Select	NP_055563.1:p.Ser249Cys
NM_001267059.2:c.710C>G	NP_001253988.1:p.Ser237Cys
NM_001267061.2:c.686C>G	NP_001253990.1:p.Ser229Cys
NR_049782.2:n.999C>G
NR_049783.2:n.972C>G
NR_049784.2:n.948C>G
NR_049785.2:n.881C>G
NR_049786.2:n.830C>G
NR_049787.2:n.681C>G
NR_049788.2:n.611C>G
NM_001267060.2:c.671C>G	NP_001253989.1:p.Ser224Cys