Canonical Allele Identifier: CA490206090

Gene: PATL2

Linked Data

• dbSNP Id: rs2086851308
• gnomAD v3: 15-44711069-C-T
• gnomAD v4: 15-44711069-C-T
• MyVariant Identifiers: chr15:g.45003267C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44711069C>T , CM000677.2:g.44711069C>T	GRCh38
NC_000015.9:g.45003267C>T , CM000677.1:g.45003267C>T	GRCh37
NC_000015.8:g.42790559C>T	NCBI36
NG_012920.1:g.4583C>T
NG_012920.2:g.4593C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682850.1:c.-303G>A MANE Select	ENSP00000508024.1:n.-303G>A
ENST00000558573.1:n.248G>A
XM_011521338.1:c.-303G>A	XP_011519640.1:n.-303G>A
XM_011521339.1:c.-184G>A	XP_011519641.1:n.-184G>A
XM_011521340.1:c.-125G>A	XP_011519642.1:n.-125G>A
XM_011521343.1:c.-387G>A	XP_011519645.1:n.-387G>A
XM_011521345.1:c.-358G>A	XP_011519647.1:n.-358G>A
XM_011521338.3:c.-303G>A	XP_011519640.1:n.-303G>A
XM_011521339.3:c.-184G>A	XP_011519641.1:n.-184G>A
XM_011521340.3:c.-125G>A	XP_011519642.1:n.-125G>A
XM_011521343.3:c.-387G>A	XP_011519645.1:n.-387G>A
XM_011521345.3:c.-358G>A	XP_011519647.1:n.-358G>A
NM_001387260.1:c.-76+263G>A	NP_001374189.1:n.-76+263G>A
NM_001387261.1:c.-125G>A	NP_001374190.1:n.-125G>A
NM_001387262.1:c.-393G>A	NP_001374191.1:n.-393G>A
NM_001387263.1:c.-303G>A MANE Select	NP_001374192.1:n.-303G>A