Canonical Allele Identifier: CA425606819

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27598384G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375517G>C , CM000664.2:g.27375517G>C	GRCh38
NC_000002.11:g.27598384G>C , CM000664.1:g.27598384G>C	GRCh37
NC_000002.10:g.27451888G>C	NCBI36
NG_028219.1:g.10228C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.786G>C MANE Select	ENSP00000233575.2:p.Leu262=
ENST00000233575.6:c.786G>C	ENSP00000233575.2:p.Leu262=
ENST00000427123.5:c.*596G>C	ENSP00000405399.1:n.*596G>C
ENST00000440760.5:c.*631G>C	ENSP00000399727.1:n.*631G>C
ENST00000453453.1:c.*313G>C	ENSP00000401922.1:n.*313G>C
ENST00000493711.1:n.503G>C
ENST00000494893.5:n.962G>C
ENST00000537606.5:c.711G>C	ENSP00000439208.1:p.Leu237=
NM_001267059.1:c.750G>C	NP_001253988.1:p.Leu250=
NM_001267060.1:c.711G>C	NP_001253989.1:p.Leu237=
NM_001267061.1:c.726G>C	NP_001253990.1:p.Leu242=
NM_014748.3:c.786G>C	NP_055563.1:p.Leu262=
NR_049782.1:n.1159G>C
NR_049783.1:n.1132G>C
NR_049784.1:n.1108G>C
NR_049785.1:n.1041G>C
NR_049786.1:n.990G>C
NR_049787.1:n.841G>C
NR_049788.1:n.771G>C
XM_011533203.1:c.144G>C	XP_011531505.1:p.Leu48=
XM_011533203.2:c.144G>C	XP_011531505.1:p.Leu48=
XM_017005405.2:c.144G>C	XP_016860894.1:p.Leu48=
NM_014748.4:c.786G>C MANE Select	NP_055563.1:p.Leu262=
NM_001267059.2:c.750G>C	NP_001253988.1:p.Leu250=
NM_001267061.2:c.726G>C	NP_001253990.1:p.Leu242=
NR_049782.2:n.1039G>C
NR_049783.2:n.1012G>C
NR_049784.2:n.988G>C
NR_049785.2:n.921G>C
NR_049786.2:n.870G>C
NR_049787.2:n.721G>C
NR_049788.2:n.651G>C
NM_001267060.2:c.711G>C	NP_001253989.1:p.Leu237=