Canonical Allele Identifier: CA346209780

Gene: SNX17

Linked Data

• dbSNP Id: rs2148402468
• MyVariant Identifiers: chr2:g.27597990A>T (hg19) ; chr2:g.27375123A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375123A>T , CM000664.2:g.27375123A>T	GRCh38
NC_000002.11:g.27597990A>T , CM000664.1:g.27597990A>T	GRCh37
NC_000002.10:g.27451494A>T	NCBI36
NG_009305.1:g.335T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.744A>T MANE Select	ENSP00000233575.2:p.Lys248Asn
ENST00000233575.6:c.744A>T	ENSP00000233575.2:p.Lys248Asn
ENST00000427123.5:c.*554A>T	ENSP00000405399.1:n.*554A>T
ENST00000440760.5:c.*589A>T	ENSP00000399727.1:n.*589A>T
ENST00000453453.1:c.*271A>T	ENSP00000401922.1:n.*271A>T
ENST00000493711.1:n.461A>T
ENST00000494893.5:n.920A>T
ENST00000537606.5:c.669A>T	ENSP00000439208.1:p.Lys223Asn
NM_001267059.1:c.708A>T	NP_001253988.1:p.Lys236Asn
NM_001267060.1:c.669A>T	NP_001253989.1:p.Lys223Asn
NM_001267061.1:c.684A>T	NP_001253990.1:p.Lys228Asn
NM_014748.3:c.744A>T	NP_055563.1:p.Lys248Asn
NR_049782.1:n.1117A>T
NR_049783.1:n.1090A>T
NR_049784.1:n.1066A>T
NR_049785.1:n.999A>T
NR_049786.1:n.948A>T
NR_049787.1:n.799A>T
NR_049788.1:n.729A>T
XM_011533203.1:c.102A>T	XP_011531505.1:p.Lys34Asn
XM_011533203.2:c.102A>T	XP_011531505.1:p.Lys34Asn
XM_017005405.2:c.102A>T	XP_016860894.1:p.Lys34Asn
NM_014748.4:c.744A>T MANE Select	NP_055563.1:p.Lys248Asn
NM_001267059.2:c.708A>T	NP_001253988.1:p.Lys236Asn
NM_001267061.2:c.684A>T	NP_001253990.1:p.Lys228Asn
NR_049782.2:n.997A>T
NR_049783.2:n.970A>T
NR_049784.2:n.946A>T
NR_049785.2:n.879A>T
NR_049786.2:n.828A>T
NR_049787.2:n.679A>T
NR_049788.2:n.609A>T
NM_001267060.2:c.669A>T	NP_001253989.1:p.Lys223Asn