Canonical Allele Identifier: CA270113980

Gene: PATL2

Linked Data

• dbSNP Id: rs868522909
• MyVariant Identifiers: chr15:g.45003507C>G (hg19) ; chr15:g.44711309C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44711309C>G , CM000677.2:g.44711309C>G	GRCh38
NC_000015.9:g.45003507C>G , CM000677.1:g.45003507C>G	GRCh37
NC_000015.8:g.42790799C>G	NCBI36
NG_012920.1:g.4823C>G
NG_012920.2:g.4833C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682850.1:c.-543G>C MANE Select	ENSP00000508024.1:n.-543G>C
ENST00000558573.1:n.8G>C
XM_011521338.1:c.-543G>C	XP_011519640.1:n.-543G>C
XM_011521339.1:c.-424G>C	XP_011519641.1:n.-424G>C
XM_011521340.1:c.-365G>C	XP_011519642.1:n.-365G>C
XM_011521343.1:c.-627G>C	XP_011519645.1:n.-627G>C
XM_011521345.1:c.-598G>C	XP_011519647.1:n.-598G>C
XM_011521338.3:c.-543G>C	XP_011519640.1:n.-543G>C
XM_011521339.3:c.-424G>C	XP_011519641.1:n.-424G>C
XM_011521340.3:c.-365G>C	XP_011519642.1:n.-365G>C
XM_011521343.3:c.-627G>C	XP_011519645.1:n.-627G>C
XM_011521345.3:c.-598G>C	XP_011519647.1:n.-598G>C
NM_001387260.1:c.-76+23G>C	NP_001374189.1:n.-76+23G>C
NM_001387261.1:c.-365G>C	NP_001374190.1:n.-365G>C
NM_001387262.1:c.-633G>C	NP_001374191.1:n.-633G>C
NM_001387263.1:c.-543G>C MANE Select	NP_001374192.1:n.-543G>C