Canonical Allele Identifier: CA490206789
Gene: PATL2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.45003478T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.44711280T>G , CM000677.2:g.44711280T>G GRCh38
NC_000015.9:g.45003478T>G , CM000677.1:g.45003478T>G GRCh37
NC_000015.8:g.42790770T>G NCBI36
NG_012920.1:g.4794T>G
NG_012920.2:g.4804T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682850.1:c.-514A>C MANE Select ENSP00000508024.1:n.-514A>C
ENST00000558573.1:n.37A>C
XM_011521338.1:c.-514A>C XP_011519640.1:n.-514A>C
XM_011521339.1:c.-395A>C XP_011519641.1:n.-395A>C
XM_011521340.1:c.-336A>C XP_011519642.1:n.-336A>C
XM_011521343.1:c.-598A>C XP_011519645.1:n.-598A>C
XM_011521345.1:c.-569A>C XP_011519647.1:n.-569A>C
XM_011521338.3:c.-514A>C XP_011519640.1:n.-514A>C
XM_011521339.3:c.-395A>C XP_011519641.1:n.-395A>C
XM_011521340.3:c.-336A>C XP_011519642.1:n.-336A>C
XM_011521343.3:c.-598A>C XP_011519645.1:n.-598A>C
XM_011521345.3:c.-569A>C XP_011519647.1:n.-569A>C
NM_001387260.1:c.-76+52A>C NP_001374189.1:n.-76+52A>C
NM_001387261.1:c.-336A>C NP_001374190.1:n.-336A>C
NM_001387262.1:c.-604A>C NP_001374191.1:n.-604A>C
NM_001387263.1:c.-514A>C MANE Select NP_001374192.1:n.-514A>C