Canonical Allele Identifier: CA490206738

Gene: PATL2

Linked Data

• gnomAD v4: 15-44711263-C-A
• MyVariant Identifiers: chr15:g.45003461C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44711263C>A , CM000677.2:g.44711263C>A	GRCh38
NC_000015.9:g.45003461C>A , CM000677.1:g.45003461C>A	GRCh37
NC_000015.8:g.42790753C>A	NCBI36
NG_012920.1:g.4777C>A
NG_012920.2:g.4787C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682850.1:c.-497G>T MANE Select	ENSP00000508024.1:n.-497G>T
ENST00000558573.1:n.54G>T
XM_011521338.1:c.-497G>T	XP_011519640.1:n.-497G>T
XM_011521339.1:c.-378G>T	XP_011519641.1:n.-378G>T
XM_011521340.1:c.-319G>T	XP_011519642.1:n.-319G>T
XM_011521343.1:c.-581G>T	XP_011519645.1:n.-581G>T
XM_011521345.1:c.-552G>T	XP_011519647.1:n.-552G>T
XM_011521338.3:c.-497G>T	XP_011519640.1:n.-497G>T
XM_011521339.3:c.-378G>T	XP_011519641.1:n.-378G>T
XM_011521340.3:c.-319G>T	XP_011519642.1:n.-319G>T
XM_011521343.3:c.-581G>T	XP_011519645.1:n.-581G>T
XM_011521345.3:c.-552G>T	XP_011519647.1:n.-552G>T
NM_001387260.1:c.-76+69G>T	NP_001374189.1:n.-76+69G>T
NM_001387261.1:c.-319G>T	NP_001374190.1:n.-319G>T
NM_001387262.1:c.-587G>T	NP_001374191.1:n.-587G>T
NM_001387263.1:c.-497G>T MANE Select	NP_001374192.1:n.-497G>T