Canonical Allele Identifier: CA346209734

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27597969G>T (hg19) ; chr2:g.27375102G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375102G>T , CM000664.2:g.27375102G>T	GRCh38
NC_000002.11:g.27597969G>T , CM000664.1:g.27597969G>T	GRCh37
NC_000002.10:g.27451473G>T	NCBI36
NG_009305.1:g.356C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.723G>T MANE Select	ENSP00000233575.2:p.Lys241Asn
ENST00000233575.6:c.723G>T	ENSP00000233575.2:p.Lys241Asn
ENST00000427123.5:c.*533G>T	ENSP00000405399.1:n.*533G>T
ENST00000440760.5:c.*568G>T	ENSP00000399727.1:n.*568G>T
ENST00000453453.1:c.*250G>T	ENSP00000401922.1:n.*250G>T
ENST00000493711.1:n.440G>T
ENST00000494893.5:n.899G>T
ENST00000537606.5:c.648G>T	ENSP00000439208.1:p.Lys216Asn
NM_001267059.1:c.687G>T	NP_001253988.1:p.Lys229Asn
NM_001267060.1:c.648G>T	NP_001253989.1:p.Lys216Asn
NM_001267061.1:c.663G>T	NP_001253990.1:p.Lys221Asn
NM_014748.3:c.723G>T	NP_055563.1:p.Lys241Asn
NR_049782.1:n.1096G>T
NR_049783.1:n.1069G>T
NR_049784.1:n.1045G>T
NR_049785.1:n.978G>T
NR_049786.1:n.927G>T
NR_049787.1:n.778G>T
NR_049788.1:n.708G>T
XM_011533203.1:c.81G>T	XP_011531505.1:p.Lys27Asn
XM_011533203.2:c.81G>T	XP_011531505.1:p.Lys27Asn
XM_017005405.2:c.81G>T	XP_016860894.1:p.Lys27Asn
NM_014748.4:c.723G>T MANE Select	NP_055563.1:p.Lys241Asn
NM_001267059.2:c.687G>T	NP_001253988.1:p.Lys229Asn
NM_001267061.2:c.663G>T	NP_001253990.1:p.Lys221Asn
NR_049782.2:n.976G>T
NR_049783.2:n.949G>T
NR_049784.2:n.925G>T
NR_049785.2:n.858G>T
NR_049786.2:n.807G>T
NR_049787.2:n.658G>T
NR_049788.2:n.588G>T
NM_001267060.2:c.648G>T	NP_001253989.1:p.Lys216Asn