Canonical Allele Identifier: CA490206370

Gene: PATL2

Linked Data

• gnomAD v4: 15-44711143-G-T
• MyVariant Identifiers: chr15:g.45003341G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44711143G>T , CM000677.2:g.44711143G>T	GRCh38
NC_000015.9:g.45003341G>T , CM000677.1:g.45003341G>T	GRCh37
NC_000015.8:g.42790633G>T	NCBI36
NG_012920.1:g.4657G>T
NG_012920.2:g.4667G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682850.1:c.-377C>A MANE Select	ENSP00000508024.1:n.-377C>A
ENST00000558573.1:n.174C>A
XM_011521338.1:c.-377C>A	XP_011519640.1:n.-377C>A
XM_011521339.1:c.-258C>A	XP_011519641.1:n.-258C>A
XM_011521340.1:c.-199C>A	XP_011519642.1:n.-199C>A
XM_011521343.1:c.-461C>A	XP_011519645.1:n.-461C>A
XM_011521345.1:c.-432C>A	XP_011519647.1:n.-432C>A
XM_011521338.3:c.-377C>A	XP_011519640.1:n.-377C>A
XM_011521339.3:c.-258C>A	XP_011519641.1:n.-258C>A
XM_011521340.3:c.-199C>A	XP_011519642.1:n.-199C>A
XM_011521343.3:c.-461C>A	XP_011519645.1:n.-461C>A
XM_011521345.3:c.-432C>A	XP_011519647.1:n.-432C>A
NM_001387260.1:c.-76+189C>A	NP_001374189.1:n.-76+189C>A
NM_001387261.1:c.-199C>A	NP_001374190.1:n.-199C>A
NM_001387262.1:c.-467C>A	NP_001374191.1:n.-467C>A
NM_001387263.1:c.-377C>A MANE Select	NP_001374192.1:n.-377C>A