Canonical Allele Identifier: CA490206751

Gene: PATL2

Linked Data

• gnomAD v4: 15-44711267-C-T
• MyVariant Identifiers: chr15:g.45003465C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44711267C>T , CM000677.2:g.44711267C>T	GRCh38
NC_000015.9:g.45003465C>T , CM000677.1:g.45003465C>T	GRCh37
NC_000015.8:g.42790757C>T	NCBI36
NG_012920.1:g.4781C>T
NG_012920.2:g.4791C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682850.1:c.-501G>A MANE Select	ENSP00000508024.1:n.-501G>A
ENST00000558573.1:n.50G>A
XM_011521338.1:c.-501G>A	XP_011519640.1:n.-501G>A
XM_011521339.1:c.-382G>A	XP_011519641.1:n.-382G>A
XM_011521340.1:c.-323G>A	XP_011519642.1:n.-323G>A
XM_011521343.1:c.-585G>A	XP_011519645.1:n.-585G>A
XM_011521345.1:c.-556G>A	XP_011519647.1:n.-556G>A
XM_011521338.3:c.-501G>A	XP_011519640.1:n.-501G>A
XM_011521339.3:c.-382G>A	XP_011519641.1:n.-382G>A
XM_011521340.3:c.-323G>A	XP_011519642.1:n.-323G>A
XM_011521343.3:c.-585G>A	XP_011519645.1:n.-585G>A
XM_011521345.3:c.-556G>A	XP_011519647.1:n.-556G>A
NM_001387260.1:c.-76+65G>A	NP_001374189.1:n.-76+65G>A
NM_001387261.1:c.-323G>A	NP_001374190.1:n.-323G>A
NM_001387262.1:c.-591G>A	NP_001374191.1:n.-591G>A
NM_001387263.1:c.-501G>A MANE Select	NP_001374192.1:n.-501G>A