Canonical Allele Identifier: CA346209693

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27597950G>C (hg19) ; chr2:g.27375083G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375083G>C , CM000664.2:g.27375083G>C	GRCh38
NC_000002.11:g.27597950G>C , CM000664.1:g.27597950G>C	GRCh37
NC_000002.10:g.27451454G>C	NCBI36
NG_009305.1:g.375C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.704G>C MANE Select	ENSP00000233575.2:p.Gly235Ala
ENST00000233575.6:c.704G>C	ENSP00000233575.2:p.Gly235Ala
ENST00000427123.5:c.*514G>C	ENSP00000405399.1:n.*514G>C
ENST00000440760.5:c.*549G>C	ENSP00000399727.1:n.*549G>C
ENST00000453453.1:c.*231G>C	ENSP00000401922.1:n.*231G>C
ENST00000493711.1:n.421G>C
ENST00000494893.5:n.880G>C
ENST00000537606.5:c.629G>C	ENSP00000439208.1:p.Gly210Ala
NM_001267059.1:c.668G>C	NP_001253988.1:p.Gly223Ala
NM_001267060.1:c.629G>C	NP_001253989.1:p.Gly210Ala
NM_001267061.1:c.644G>C	NP_001253990.1:p.Gly215Ala
NM_014748.3:c.704G>C	NP_055563.1:p.Gly235Ala
NR_049782.1:n.1077G>C
NR_049783.1:n.1050G>C
NR_049784.1:n.1026G>C
NR_049785.1:n.959G>C
NR_049786.1:n.908G>C
NR_049787.1:n.759G>C
NR_049788.1:n.689G>C
XM_011533203.1:c.62G>C	XP_011531505.1:p.Gly21Ala
XM_011533203.2:c.62G>C	XP_011531505.1:p.Gly21Ala
XM_017005405.2:c.62G>C	XP_016860894.1:p.Gly21Ala
NM_014748.4:c.704G>C MANE Select	NP_055563.1:p.Gly235Ala
NM_001267059.2:c.668G>C	NP_001253988.1:p.Gly223Ala
NM_001267061.2:c.644G>C	NP_001253990.1:p.Gly215Ala
NR_049782.2:n.957G>C
NR_049783.2:n.930G>C
NR_049784.2:n.906G>C
NR_049785.2:n.839G>C
NR_049786.2:n.788G>C
NR_049787.2:n.639G>C
NR_049788.2:n.569G>C
NM_001267060.2:c.629G>C	NP_001253989.1:p.Gly210Ala