Canonical Allele Identifier: CA490205894

Gene: PATL2

Linked Data

• dbSNP Id: rs2086850815
• gnomAD v3: 15-44711020-C-A
• gnomAD v4: 15-44711020-C-A
• MyVariant Identifiers: chr15:g.45003218C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44711020C>A , CM000677.2:g.44711020C>A	GRCh38
NC_000015.9:g.45003218C>A , CM000677.1:g.45003218C>A	GRCh37
NC_000015.8:g.42790510C>A	NCBI36
NG_012920.1:g.4534C>A
NG_012920.2:g.4544C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682850.1:c.-254G>T MANE Select	ENSP00000508024.1:n.-254G>T
ENST00000558573.1:n.297G>T
XM_011521338.1:c.-254G>T	XP_011519640.1:n.-254G>T
XM_011521339.1:c.-135G>T	XP_011519641.1:n.-135G>T
XM_011521340.1:c.-76G>T	XP_011519642.1:n.-76G>T
XM_011521343.1:c.-338G>T	XP_011519645.1:n.-338G>T
XM_011521345.1:c.-309G>T	XP_011519647.1:n.-309G>T
XM_011521338.3:c.-254G>T	XP_011519640.1:n.-254G>T
XM_011521339.3:c.-135G>T	XP_011519641.1:n.-135G>T
XM_011521340.3:c.-76G>T	XP_011519642.1:n.-76G>T
XM_011521343.3:c.-338G>T	XP_011519645.1:n.-338G>T
XM_011521345.3:c.-309G>T	XP_011519647.1:n.-309G>T
NM_001387260.1:c.-76+312G>T	NP_001374189.1:n.-76+312G>T
NM_001387261.1:c.-76G>T	NP_001374190.1:n.-76G>T
NM_001387262.1:c.-344G>T	NP_001374191.1:n.-344G>T
NM_001387263.1:c.-254G>T MANE Select	NP_001374192.1:n.-254G>T