Canonical Allele Identifier: CA346209828

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27598012A>T (hg19) ; chr2:g.27375145A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375145A>T , CM000664.2:g.27375145A>T	GRCh38
NC_000002.11:g.27598012A>T , CM000664.1:g.27598012A>T	GRCh37
NC_000002.10:g.27451516A>T	NCBI36
NG_009305.1:g.313T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.766A>T MANE Select	ENSP00000233575.2:p.Lys256Ter
ENST00000233575.6:c.766A>T	ENSP00000233575.2:p.Lys256Ter
ENST00000427123.5:c.*576A>T	ENSP00000405399.1:n.*576A>T
ENST00000440760.5:c.*611A>T	ENSP00000399727.1:n.*611A>T
ENST00000453453.1:c.*293A>T	ENSP00000401922.1:n.*293A>T
ENST00000493711.1:n.483A>T
ENST00000494893.5:n.942A>T
ENST00000537606.5:c.691A>T	ENSP00000439208.1:p.Lys231Ter
NM_001267059.1:c.730A>T	NP_001253988.1:p.Lys244Ter
NM_001267060.1:c.691A>T	NP_001253989.1:p.Lys231Ter
NM_001267061.1:c.706A>T	NP_001253990.1:p.Lys236Ter
NM_014748.3:c.766A>T	NP_055563.1:p.Lys256Ter
NR_049782.1:n.1139A>T
NR_049783.1:n.1112A>T
NR_049784.1:n.1088A>T
NR_049785.1:n.1021A>T
NR_049786.1:n.970A>T
NR_049787.1:n.821A>T
NR_049788.1:n.751A>T
XM_011533203.1:c.124A>T	XP_011531505.1:p.Lys42Ter
XM_011533203.2:c.124A>T	XP_011531505.1:p.Lys42Ter
XM_017005405.2:c.124A>T	XP_016860894.1:p.Lys42Ter
NM_014748.4:c.766A>T MANE Select	NP_055563.1:p.Lys256Ter
NM_001267059.2:c.730A>T	NP_001253988.1:p.Lys244Ter
NM_001267061.2:c.706A>T	NP_001253990.1:p.Lys236Ter
NR_049782.2:n.1019A>T
NR_049783.2:n.992A>T
NR_049784.2:n.968A>T
NR_049785.2:n.901A>T
NR_049786.2:n.850A>T
NR_049787.2:n.701A>T
NR_049788.2:n.631A>T
NM_001267060.2:c.691A>T	NP_001253989.1:p.Lys231Ter