Canonical Allele Identifier: CA346209651

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27597929C>G (hg19) ; chr2:g.27375062C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375062C>G , CM000664.2:g.27375062C>G	GRCh38
NC_000002.11:g.27597929C>G , CM000664.1:g.27597929C>G	GRCh37
NC_000002.10:g.27451433C>G	NCBI36
NG_009305.1:g.396G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.683C>G MANE Select	ENSP00000233575.2:p.Thr228Arg
ENST00000233575.6:c.683C>G	ENSP00000233575.2:p.Thr228Arg
ENST00000427123.5:c.*493C>G	ENSP00000405399.1:n.*493C>G
ENST00000440760.5:c.*528C>G	ENSP00000399727.1:n.*528C>G
ENST00000453453.1:c.*210C>G	ENSP00000401922.1:n.*210C>G
ENST00000493711.1:n.400C>G
ENST00000494893.5:n.859C>G
ENST00000537606.5:c.608C>G	ENSP00000439208.1:p.Thr203Arg
NM_001267059.1:c.647C>G	NP_001253988.1:p.Thr216Arg
NM_001267060.1:c.608C>G	NP_001253989.1:p.Thr203Arg
NM_001267061.1:c.623C>G	NP_001253990.1:p.Thr208Arg
NM_014748.3:c.683C>G	NP_055563.1:p.Thr228Arg
NR_049782.1:n.1056C>G
NR_049783.1:n.1029C>G
NR_049784.1:n.1005C>G
NR_049785.1:n.938C>G
NR_049786.1:n.887C>G
NR_049787.1:n.738C>G
NR_049788.1:n.668C>G
XM_011533203.1:c.41C>G	XP_011531505.1:p.Thr14Arg
XM_011533203.2:c.41C>G	XP_011531505.1:p.Thr14Arg
XM_017005405.2:c.41C>G	XP_016860894.1:p.Thr14Arg
NM_014748.4:c.683C>G MANE Select	NP_055563.1:p.Thr228Arg
NM_001267059.2:c.647C>G	NP_001253988.1:p.Thr216Arg
NM_001267061.2:c.623C>G	NP_001253990.1:p.Thr208Arg
NR_049782.2:n.936C>G
NR_049783.2:n.909C>G
NR_049784.2:n.885C>G
NR_049785.2:n.818C>G
NR_049786.2:n.767C>G
NR_049787.2:n.618C>G
NR_049788.2:n.548C>G
NM_001267060.2:c.608C>G	NP_001253989.1:p.Thr203Arg