Canonical Allele Identifier: CA490206179

Gene: PATL2

Linked Data

• dbSNP Id: rs1267034451
• MyVariant Identifiers: chr15:g.45003290A>G (hg19) ; chr15:g.44711092A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44711092A>G , CM000677.2:g.44711092A>G	GRCh38
NC_000015.9:g.45003290A>G , CM000677.1:g.45003290A>G	GRCh37
NC_000015.8:g.42790582A>G	NCBI36
NG_012920.1:g.4606A>G
NG_012920.2:g.4616A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682850.1:c.-326T>C MANE Select	ENSP00000508024.1:n.-326T>C
ENST00000558573.1:n.225T>C
XM_011521338.1:c.-326T>C	XP_011519640.1:n.-326T>C
XM_011521339.1:c.-207T>C	XP_011519641.1:n.-207T>C
XM_011521340.1:c.-148T>C	XP_011519642.1:n.-148T>C
XM_011521343.1:c.-410T>C	XP_011519645.1:n.-410T>C
XM_011521345.1:c.-381T>C	XP_011519647.1:n.-381T>C
XM_011521338.3:c.-326T>C	XP_011519640.1:n.-326T>C
XM_011521339.3:c.-207T>C	XP_011519641.1:n.-207T>C
XM_011521340.3:c.-148T>C	XP_011519642.1:n.-148T>C
XM_011521343.3:c.-410T>C	XP_011519645.1:n.-410T>C
XM_011521345.3:c.-381T>C	XP_011519647.1:n.-381T>C
NM_001387260.1:c.-76+240T>C	NP_001374189.1:n.-76+240T>C
NM_001387261.1:c.-148T>C	NP_001374190.1:n.-148T>C
NM_001387262.1:c.-416T>C	NP_001374191.1:n.-416T>C
NM_001387263.1:c.-326T>C MANE Select	NP_001374192.1:n.-326T>C