Canonical Allele Identifier: CA490206043
Gene: PATL2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.45003255T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.44711057T>G , CM000677.2:g.44711057T>G GRCh38
NC_000015.9:g.45003255T>G , CM000677.1:g.45003255T>G GRCh37
NC_000015.8:g.42790547T>G NCBI36
NG_012920.1:g.4571T>G
NG_012920.2:g.4581T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682850.1:c.-291A>C MANE Select ENSP00000508024.1:n.-291A>C
ENST00000558573.1:n.260A>C
XM_011521338.1:c.-291A>C XP_011519640.1:n.-291A>C
XM_011521339.1:c.-172A>C XP_011519641.1:n.-172A>C
XM_011521340.1:c.-113A>C XP_011519642.1:n.-113A>C
XM_011521343.1:c.-375A>C XP_011519645.1:n.-375A>C
XM_011521345.1:c.-346A>C XP_011519647.1:n.-346A>C
XM_011521338.3:c.-291A>C XP_011519640.1:n.-291A>C
XM_011521339.3:c.-172A>C XP_011519641.1:n.-172A>C
XM_011521340.3:c.-113A>C XP_011519642.1:n.-113A>C
XM_011521343.3:c.-375A>C XP_011519645.1:n.-375A>C
XM_011521345.3:c.-346A>C XP_011519647.1:n.-346A>C
NM_001387260.1:c.-76+275A>C NP_001374189.1:n.-76+275A>C
NM_001387261.1:c.-113A>C NP_001374190.1:n.-113A>C
NM_001387262.1:c.-381A>C NP_001374191.1:n.-381A>C
NM_001387263.1:c.-291A>C MANE Select NP_001374192.1:n.-291A>C