Canonical Allele Identifier: CA346210077

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27598406G>C (hg19) ; chr2:g.27375539G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375539G>C , CM000664.2:g.27375539G>C	GRCh38
NC_000002.11:g.27598406G>C , CM000664.1:g.27598406G>C	GRCh37
NC_000002.10:g.27451910G>C	NCBI36
NG_028219.1:g.10206C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.808G>C MANE Select	ENSP00000233575.2:p.Gly270Arg
ENST00000233575.6:c.808G>C	ENSP00000233575.2:p.Gly270Arg
ENST00000427123.5:c.*618G>C	ENSP00000405399.1:n.*618G>C
ENST00000440760.5:c.*653G>C	ENSP00000399727.1:n.*653G>C
ENST00000453453.1:c.*335G>C	ENSP00000401922.1:n.*335G>C
ENST00000493711.1:n.525G>C
ENST00000537606.5:c.733G>C	ENSP00000439208.1:p.Gly245Arg
NM_001267059.1:c.772G>C	NP_001253988.1:p.Gly258Arg
NM_001267060.1:c.733G>C	NP_001253989.1:p.Gly245Arg
NM_001267061.1:c.748G>C	NP_001253990.1:p.Gly250Arg
NM_014748.3:c.808G>C	NP_055563.1:p.Gly270Arg
NR_049782.1:n.1181G>C
NR_049783.1:n.1154G>C
NR_049784.1:n.1130G>C
NR_049785.1:n.1063G>C
NR_049786.1:n.1012G>C
NR_049787.1:n.863G>C
NR_049788.1:n.793G>C
XM_011533203.1:c.166G>C	XP_011531505.1:p.Gly56Arg
XM_011533203.2:c.166G>C	XP_011531505.1:p.Gly56Arg
XM_017005405.2:c.166G>C	XP_016860894.1:p.Gly56Arg
NM_014748.4:c.808G>C MANE Select	NP_055563.1:p.Gly270Arg
NM_001267059.2:c.772G>C	NP_001253988.1:p.Gly258Arg
NM_001267061.2:c.748G>C	NP_001253990.1:p.Gly250Arg
NR_049782.2:n.1061G>C
NR_049783.2:n.1034G>C
NR_049784.2:n.1010G>C
NR_049785.2:n.943G>C
NR_049786.2:n.892G>C
NR_049787.2:n.743G>C
NR_049788.2:n.673G>C
NM_001267060.2:c.733G>C	NP_001253989.1:p.Gly245Arg