Canonical Allele Identifier: CA346209702

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27597955A>C (hg19) ; chr2:g.27375088A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375088A>C , CM000664.2:g.27375088A>C	GRCh38
NC_000002.11:g.27597955A>C , CM000664.1:g.27597955A>C	GRCh37
NC_000002.10:g.27451459A>C	NCBI36
NG_009305.1:g.370T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.709A>C MANE Select	ENSP00000233575.2:p.Ile237Leu
ENST00000233575.6:c.709A>C	ENSP00000233575.2:p.Ile237Leu
ENST00000427123.5:c.*519A>C	ENSP00000405399.1:n.*519A>C
ENST00000440760.5:c.*554A>C	ENSP00000399727.1:n.*554A>C
ENST00000453453.1:c.*236A>C	ENSP00000401922.1:n.*236A>C
ENST00000493711.1:n.426A>C
ENST00000494893.5:n.885A>C
ENST00000537606.5:c.634A>C	ENSP00000439208.1:p.Ile212Leu
NM_001267059.1:c.673A>C	NP_001253988.1:p.Ile225Leu
NM_001267060.1:c.634A>C	NP_001253989.1:p.Ile212Leu
NM_001267061.1:c.649A>C	NP_001253990.1:p.Ile217Leu
NM_014748.3:c.709A>C	NP_055563.1:p.Ile237Leu
NR_049782.1:n.1082A>C
NR_049783.1:n.1055A>C
NR_049784.1:n.1031A>C
NR_049785.1:n.964A>C
NR_049786.1:n.913A>C
NR_049787.1:n.764A>C
NR_049788.1:n.694A>C
XM_011533203.1:c.67A>C	XP_011531505.1:p.Ile23Leu
XM_011533203.2:c.67A>C	XP_011531505.1:p.Ile23Leu
XM_017005405.2:c.67A>C	XP_016860894.1:p.Ile23Leu
NM_014748.4:c.709A>C MANE Select	NP_055563.1:p.Ile237Leu
NM_001267059.2:c.673A>C	NP_001253988.1:p.Ile225Leu
NM_001267061.2:c.649A>C	NP_001253990.1:p.Ile217Leu
NR_049782.2:n.962A>C
NR_049783.2:n.935A>C
NR_049784.2:n.911A>C
NR_049785.2:n.844A>C
NR_049786.2:n.793A>C
NR_049787.2:n.644A>C
NR_049788.2:n.574A>C
NM_001267060.2:c.634A>C	NP_001253989.1:p.Ile212Leu