Canonical Allele Identifier: CA490206517

Gene: PATL2

Linked Data

• gnomAD v4: 15-44711188-T-C
• MyVariant Identifiers: chr15:g.45003386T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44711188T>C , CM000677.2:g.44711188T>C	GRCh38
NC_000015.9:g.45003386T>C , CM000677.1:g.45003386T>C	GRCh37
NC_000015.8:g.42790678T>C	NCBI36
NG_012920.1:g.4702T>C
NG_012920.2:g.4712T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682850.1:c.-422A>G MANE Select	ENSP00000508024.1:n.-422A>G
ENST00000558573.1:n.129A>G
XM_011521338.1:c.-422A>G	XP_011519640.1:n.-422A>G
XM_011521339.1:c.-303A>G	XP_011519641.1:n.-303A>G
XM_011521340.1:c.-244A>G	XP_011519642.1:n.-244A>G
XM_011521343.1:c.-506A>G	XP_011519645.1:n.-506A>G
XM_011521345.1:c.-477A>G	XP_011519647.1:n.-477A>G
XM_011521338.3:c.-422A>G	XP_011519640.1:n.-422A>G
XM_011521339.3:c.-303A>G	XP_011519641.1:n.-303A>G
XM_011521340.3:c.-244A>G	XP_011519642.1:n.-244A>G
XM_011521343.3:c.-506A>G	XP_011519645.1:n.-506A>G
XM_011521345.3:c.-477A>G	XP_011519647.1:n.-477A>G
NM_001387260.1:c.-76+144A>G	NP_001374189.1:n.-76+144A>G
NM_001387261.1:c.-244A>G	NP_001374190.1:n.-244A>G
NM_001387262.1:c.-512A>G	NP_001374191.1:n.-512A>G
NM_001387263.1:c.-422A>G MANE Select	NP_001374192.1:n.-422A>G