Canonical Allele Identifier: CA490206060

Gene: PATL2

Linked Data

• gnomAD v4: 15-44711062-T-G
• MyVariant Identifiers: chr15:g.45003260T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44711062T>G , CM000677.2:g.44711062T>G	GRCh38
NC_000015.9:g.45003260T>G , CM000677.1:g.45003260T>G	GRCh37
NC_000015.8:g.42790552T>G	NCBI36
NG_012920.1:g.4576T>G
NG_012920.2:g.4586T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682850.1:c.-296A>C MANE Select	ENSP00000508024.1:n.-296A>C
ENST00000558573.1:n.255A>C
XM_011521338.1:c.-296A>C	XP_011519640.1:n.-296A>C
XM_011521339.1:c.-177A>C	XP_011519641.1:n.-177A>C
XM_011521340.1:c.-118A>C	XP_011519642.1:n.-118A>C
XM_011521343.1:c.-380A>C	XP_011519645.1:n.-380A>C
XM_011521345.1:c.-351A>C	XP_011519647.1:n.-351A>C
XM_011521338.3:c.-296A>C	XP_011519640.1:n.-296A>C
XM_011521339.3:c.-177A>C	XP_011519641.1:n.-177A>C
XM_011521340.3:c.-118A>C	XP_011519642.1:n.-118A>C
XM_011521343.3:c.-380A>C	XP_011519645.1:n.-380A>C
XM_011521345.3:c.-351A>C	XP_011519647.1:n.-351A>C
NM_001387260.1:c.-76+270A>C	NP_001374189.1:n.-76+270A>C
NM_001387261.1:c.-118A>C	NP_001374190.1:n.-118A>C
NM_001387262.1:c.-386A>C	NP_001374191.1:n.-386A>C
NM_001387263.1:c.-296A>C MANE Select	NP_001374192.1:n.-296A>C