Canonical Allele Identifier: CA346209782

Gene: SNX17

Linked Data

• MyVariant Identifiers: chr2:g.27597991T>C (hg19) ; chr2:g.27375124T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27375124T>C , CM000664.2:g.27375124T>C	GRCh38
NC_000002.11:g.27597991T>C , CM000664.1:g.27597991T>C	GRCh37
NC_000002.10:g.27451495T>C	NCBI36
NG_009305.1:g.334A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233575.7:c.745T>C MANE Select	ENSP00000233575.2:p.Ser249Pro
ENST00000233575.6:c.745T>C	ENSP00000233575.2:p.Ser249Pro
ENST00000427123.5:c.*555T>C	ENSP00000405399.1:n.*555T>C
ENST00000440760.5:c.*590T>C	ENSP00000399727.1:n.*590T>C
ENST00000453453.1:c.*272T>C	ENSP00000401922.1:n.*272T>C
ENST00000493711.1:n.462T>C
ENST00000494893.5:n.921T>C
ENST00000537606.5:c.670T>C	ENSP00000439208.1:p.Ser224Pro
NM_001267059.1:c.709T>C	NP_001253988.1:p.Ser237Pro
NM_001267060.1:c.670T>C	NP_001253989.1:p.Ser224Pro
NM_001267061.1:c.685T>C	NP_001253990.1:p.Ser229Pro
NM_014748.3:c.745T>C	NP_055563.1:p.Ser249Pro
NR_049782.1:n.1118T>C
NR_049783.1:n.1091T>C
NR_049784.1:n.1067T>C
NR_049785.1:n.1000T>C
NR_049786.1:n.949T>C
NR_049787.1:n.800T>C
NR_049788.1:n.730T>C
XM_011533203.1:c.103T>C	XP_011531505.1:p.Ser35Pro
XM_011533203.2:c.103T>C	XP_011531505.1:p.Ser35Pro
XM_017005405.2:c.103T>C	XP_016860894.1:p.Ser35Pro
NM_014748.4:c.745T>C MANE Select	NP_055563.1:p.Ser249Pro
NM_001267059.2:c.709T>C	NP_001253988.1:p.Ser237Pro
NM_001267061.2:c.685T>C	NP_001253990.1:p.Ser229Pro
NR_049782.2:n.998T>C
NR_049783.2:n.971T>C
NR_049784.2:n.947T>C
NR_049785.2:n.880T>C
NR_049786.2:n.829T>C
NR_049787.2:n.680T>C
NR_049788.2:n.610T>C
NM_001267060.2:c.670T>C	NP_001253989.1:p.Ser224Pro