Canonical Allele Identifier: CA346209719

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27597962T>C (hg19) ; chr2:g.27375095T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375095T>C , CM000664.2:g.27375095T>C	GRCh38
NC_000002.11:g.27597962T>C , CM000664.1:g.27597962T>C	GRCh37
NC_000002.10:g.27451466T>C	NCBI36
NG_009305.1:g.363A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.716T>C MANE Select	ENSP00000233575.2:p.Val239Ala
ENST00000233575.6:c.716T>C	ENSP00000233575.2:p.Val239Ala
ENST00000427123.5:c.*526T>C	ENSP00000405399.1:n.*526T>C
ENST00000440760.5:c.*561T>C	ENSP00000399727.1:n.*561T>C
ENST00000453453.1:c.*243T>C	ENSP00000401922.1:n.*243T>C
ENST00000493711.1:n.433T>C
ENST00000494893.5:n.892T>C
ENST00000537606.5:c.641T>C	ENSP00000439208.1:p.Val214Ala
NM_001267059.1:c.680T>C	NP_001253988.1:p.Val227Ala
NM_001267060.1:c.641T>C	NP_001253989.1:p.Val214Ala
NM_001267061.1:c.656T>C	NP_001253990.1:p.Val219Ala
NM_014748.3:c.716T>C	NP_055563.1:p.Val239Ala
NR_049782.1:n.1089T>C
NR_049783.1:n.1062T>C
NR_049784.1:n.1038T>C
NR_049785.1:n.971T>C
NR_049786.1:n.920T>C
NR_049787.1:n.771T>C
NR_049788.1:n.701T>C
XM_011533203.1:c.74T>C	XP_011531505.1:p.Val25Ala
XM_011533203.2:c.74T>C	XP_011531505.1:p.Val25Ala
XM_017005405.2:c.74T>C	XP_016860894.1:p.Val25Ala
NM_014748.4:c.716T>C MANE Select	NP_055563.1:p.Val239Ala
NM_001267059.2:c.680T>C	NP_001253988.1:p.Val227Ala
NM_001267061.2:c.656T>C	NP_001253990.1:p.Val219Ala
NR_049782.2:n.969T>C
NR_049783.2:n.942T>C
NR_049784.2:n.918T>C
NR_049785.2:n.851T>C
NR_049786.2:n.800T>C
NR_049787.2:n.651T>C
NR_049788.2:n.581T>C
NM_001267060.2:c.641T>C	NP_001253989.1:p.Val214Ala