Canonical Allele Identifier: CA346209707

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27597956T>C (hg19) ; chr2:g.27375089T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375089T>C , CM000664.2:g.27375089T>C	GRCh38
NC_000002.11:g.27597956T>C , CM000664.1:g.27597956T>C	GRCh37
NC_000002.10:g.27451460T>C	NCBI36
NG_009305.1:g.369A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.710T>C MANE Select	ENSP00000233575.2:p.Ile237Thr
ENST00000233575.6:c.710T>C	ENSP00000233575.2:p.Ile237Thr
ENST00000427123.5:c.*520T>C	ENSP00000405399.1:n.*520T>C
ENST00000440760.5:c.*555T>C	ENSP00000399727.1:n.*555T>C
ENST00000453453.1:c.*237T>C	ENSP00000401922.1:n.*237T>C
ENST00000493711.1:n.427T>C
ENST00000494893.5:n.886T>C
ENST00000537606.5:c.635T>C	ENSP00000439208.1:p.Ile212Thr
NM_001267059.1:c.674T>C	NP_001253988.1:p.Ile225Thr
NM_001267060.1:c.635T>C	NP_001253989.1:p.Ile212Thr
NM_001267061.1:c.650T>C	NP_001253990.1:p.Ile217Thr
NM_014748.3:c.710T>C	NP_055563.1:p.Ile237Thr
NR_049782.1:n.1083T>C
NR_049783.1:n.1056T>C
NR_049784.1:n.1032T>C
NR_049785.1:n.965T>C
NR_049786.1:n.914T>C
NR_049787.1:n.765T>C
NR_049788.1:n.695T>C
XM_011533203.1:c.68T>C	XP_011531505.1:p.Ile23Thr
XM_011533203.2:c.68T>C	XP_011531505.1:p.Ile23Thr
XM_017005405.2:c.68T>C	XP_016860894.1:p.Ile23Thr
NM_014748.4:c.710T>C MANE Select	NP_055563.1:p.Ile237Thr
NM_001267059.2:c.674T>C	NP_001253988.1:p.Ile225Thr
NM_001267061.2:c.650T>C	NP_001253990.1:p.Ile217Thr
NR_049782.2:n.963T>C
NR_049783.2:n.936T>C
NR_049784.2:n.912T>C
NR_049785.2:n.845T>C
NR_049786.2:n.794T>C
NR_049787.2:n.645T>C
NR_049788.2:n.575T>C
NM_001267060.2:c.635T>C	NP_001253989.1:p.Ile212Thr