Canonical Allele Identifier: CA490206493

Gene: PATL2

Linked Data

• gnomAD v4: 15-44711180-C-A
• MyVariant Identifiers: chr15:g.45003378C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44711180C>A , CM000677.2:g.44711180C>A	GRCh38
NC_000015.9:g.45003378C>A , CM000677.1:g.45003378C>A	GRCh37
NC_000015.8:g.42790670C>A	NCBI36
NG_012920.1:g.4694C>A
NG_012920.2:g.4704C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682850.1:c.-414G>T MANE Select	ENSP00000508024.1:n.-414G>T
ENST00000558573.1:n.137G>T
XM_011521338.1:c.-414G>T	XP_011519640.1:n.-414G>T
XM_011521339.1:c.-295G>T	XP_011519641.1:n.-295G>T
XM_011521340.1:c.-236G>T	XP_011519642.1:n.-236G>T
XM_011521343.1:c.-498G>T	XP_011519645.1:n.-498G>T
XM_011521345.1:c.-469G>T	XP_011519647.1:n.-469G>T
XM_011521338.3:c.-414G>T	XP_011519640.1:n.-414G>T
XM_011521339.3:c.-295G>T	XP_011519641.1:n.-295G>T
XM_011521340.3:c.-236G>T	XP_011519642.1:n.-236G>T
XM_011521343.3:c.-498G>T	XP_011519645.1:n.-498G>T
XM_011521345.3:c.-469G>T	XP_011519647.1:n.-469G>T
NM_001387260.1:c.-76+152G>T	NP_001374189.1:n.-76+152G>T
NM_001387261.1:c.-236G>T	NP_001374190.1:n.-236G>T
NM_001387262.1:c.-504G>T	NP_001374191.1:n.-504G>T
NM_001387263.1:c.-414G>T MANE Select	NP_001374192.1:n.-414G>T