Canonical Allele Identifier: CA346209774

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27597988A>C (hg19) ; chr2:g.27375121A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375121A>C , CM000664.2:g.27375121A>C	GRCh38
NC_000002.11:g.27597988A>C , CM000664.1:g.27597988A>C	GRCh37
NC_000002.10:g.27451492A>C	NCBI36
NG_009305.1:g.337T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.742A>C MANE Select	ENSP00000233575.2:p.Lys248Gln
ENST00000233575.6:c.742A>C	ENSP00000233575.2:p.Lys248Gln
ENST00000427123.5:c.*552A>C	ENSP00000405399.1:n.*552A>C
ENST00000440760.5:c.*587A>C	ENSP00000399727.1:n.*587A>C
ENST00000453453.1:c.*269A>C	ENSP00000401922.1:n.*269A>C
ENST00000493711.1:n.459A>C
ENST00000494893.5:n.918A>C
ENST00000537606.5:c.667A>C	ENSP00000439208.1:p.Lys223Gln
NM_001267059.1:c.706A>C	NP_001253988.1:p.Lys236Gln
NM_001267060.1:c.667A>C	NP_001253989.1:p.Lys223Gln
NM_001267061.1:c.682A>C	NP_001253990.1:p.Lys228Gln
NM_014748.3:c.742A>C	NP_055563.1:p.Lys248Gln
NR_049782.1:n.1115A>C
NR_049783.1:n.1088A>C
NR_049784.1:n.1064A>C
NR_049785.1:n.997A>C
NR_049786.1:n.946A>C
NR_049787.1:n.797A>C
NR_049788.1:n.727A>C
XM_011533203.1:c.100A>C	XP_011531505.1:p.Lys34Gln
XM_011533203.2:c.100A>C	XP_011531505.1:p.Lys34Gln
XM_017005405.2:c.100A>C	XP_016860894.1:p.Lys34Gln
NM_014748.4:c.742A>C MANE Select	NP_055563.1:p.Lys248Gln
NM_001267059.2:c.706A>C	NP_001253988.1:p.Lys236Gln
NM_001267061.2:c.682A>C	NP_001253990.1:p.Lys228Gln
NR_049782.2:n.995A>C
NR_049783.2:n.968A>C
NR_049784.2:n.944A>C
NR_049785.2:n.877A>C
NR_049786.2:n.826A>C
NR_049787.2:n.677A>C
NR_049788.2:n.607A>C
NM_001267060.2:c.667A>C	NP_001253989.1:p.Lys223Gln