Canonical Allele Identifier: CA490206029

Gene: PATL2

Linked Data

• dbSNP Id: rs1303307667
• gnomAD v4: 15-44711054-A-G
• MyVariant Identifiers: chr15:g.45003252A>G (hg19) ; chr15:g.44711054A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44711054A>G , CM000677.2:g.44711054A>G	GRCh38
NC_000015.9:g.45003252A>G , CM000677.1:g.45003252A>G	GRCh37
NC_000015.8:g.42790544A>G	NCBI36
NG_012920.1:g.4568A>G
NG_012920.2:g.4578A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682850.1:c.-288T>C MANE Select	ENSP00000508024.1:n.-288T>C
ENST00000558573.1:n.263T>C
XM_011521338.1:c.-288T>C	XP_011519640.1:n.-288T>C
XM_011521339.1:c.-169T>C	XP_011519641.1:n.-169T>C
XM_011521340.1:c.-110T>C	XP_011519642.1:n.-110T>C
XM_011521343.1:c.-372T>C	XP_011519645.1:n.-372T>C
XM_011521345.1:c.-343T>C	XP_011519647.1:n.-343T>C
XM_011521338.3:c.-288T>C	XP_011519640.1:n.-288T>C
XM_011521339.3:c.-169T>C	XP_011519641.1:n.-169T>C
XM_011521340.3:c.-110T>C	XP_011519642.1:n.-110T>C
XM_011521343.3:c.-372T>C	XP_011519645.1:n.-372T>C
XM_011521345.3:c.-343T>C	XP_011519647.1:n.-343T>C
NM_001387260.1:c.-76+278T>C	NP_001374189.1:n.-76+278T>C
NM_001387261.1:c.-110T>C	NP_001374190.1:n.-110T>C
NM_001387262.1:c.-378T>C	NP_001374191.1:n.-378T>C
NM_001387263.1:c.-288T>C MANE Select	NP_001374192.1:n.-288T>C