Canonical Allele Identifier: CA425415719

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27597930G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375063G>C , CM000664.2:g.27375063G>C	GRCh38
NC_000002.11:g.27597930G>C , CM000664.1:g.27597930G>C	GRCh37
NC_000002.10:g.27451434G>C	NCBI36
NG_009305.1:g.395C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.684G>C MANE Select	ENSP00000233575.2:p.Thr228=
ENST00000233575.6:c.684G>C	ENSP00000233575.2:p.Thr228=
ENST00000427123.5:c.*494G>C	ENSP00000405399.1:n.*494G>C
ENST00000440760.5:c.*529G>C	ENSP00000399727.1:n.*529G>C
ENST00000453453.1:c.*211G>C	ENSP00000401922.1:n.*211G>C
ENST00000493711.1:n.401G>C
ENST00000494893.5:n.860G>C
ENST00000537606.5:c.609G>C	ENSP00000439208.1:p.Thr203=
NM_001267059.1:c.648G>C	NP_001253988.1:p.Thr216=
NM_001267060.1:c.609G>C	NP_001253989.1:p.Thr203=
NM_001267061.1:c.624G>C	NP_001253990.1:p.Thr208=
NM_014748.3:c.684G>C	NP_055563.1:p.Thr228=
NR_049782.1:n.1057G>C
NR_049783.1:n.1030G>C
NR_049784.1:n.1006G>C
NR_049785.1:n.939G>C
NR_049786.1:n.888G>C
NR_049787.1:n.739G>C
NR_049788.1:n.669G>C
XM_011533203.1:c.42G>C	XP_011531505.1:p.Thr14=
XM_011533203.2:c.42G>C	XP_011531505.1:p.Thr14=
XM_017005405.2:c.42G>C	XP_016860894.1:p.Thr14=
NM_014748.4:c.684G>C MANE Select	NP_055563.1:p.Thr228=
NM_001267059.2:c.648G>C	NP_001253988.1:p.Thr216=
NM_001267061.2:c.624G>C	NP_001253990.1:p.Thr208=
NR_049782.2:n.937G>C
NR_049783.2:n.910G>C
NR_049784.2:n.886G>C
NR_049785.2:n.819G>C
NR_049786.2:n.768G>C
NR_049787.2:n.619G>C
NR_049788.2:n.549G>C
NM_001267060.2:c.609G>C	NP_001253989.1:p.Thr203=