Canonical Allele Identifier: CA2628214319

Gene: PATL2

Linked Data

• gnomAD v4: 15-44711357-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44711357C>A , CM000677.2:g.44711357C>A	GRCh38
NC_000015.9:g.45003555C>A , CM000677.1:g.45003555C>A	GRCh37
NC_000015.8:g.42790847C>A	NCBI36
NG_012920.1:g.4871C>A
NG_012920.2:g.4881C>A

Transcript Alleles

HGVS	Amino-acid change
XM_011521338.1:c.-591G>T	XP_011519640.1:n.-591G>T
XM_011521339.1:c.-472G>T	XP_011519641.1:n.-472G>T
XM_011521340.1:c.-413G>T	XP_011519642.1:n.-413G>T
XM_011521343.1:c.-675G>T	XP_011519645.1:n.-675G>T
XM_011521345.1:c.-646G>T	XP_011519647.1:n.-646G>T
XM_011521338.3:c.-591G>T	XP_011519640.1:n.-591G>T
XM_011521339.3:c.-472G>T	XP_011519641.1:n.-472G>T
XM_011521340.3:c.-413G>T	XP_011519642.1:n.-413G>T
XM_011521343.3:c.-675G>T	XP_011519645.1:n.-675G>T
XM_011521345.3:c.-646G>T	XP_011519647.1:n.-646G>T
NM_001387260.1:c.-101G>T	NP_001374189.1:n.-101G>T