Canonical Allele Identifier: CA490206716

Gene: PATL2

Linked Data

• dbSNP Id: rs1322521797
• gnomAD v3: 15-44711255-A-G
• gnomAD v4: 15-44711255-A-G
• MyVariant Identifiers: chr15:g.45003453A>G (hg19) ; chr15:g.44711255A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44711255A>G , CM000677.2:g.44711255A>G	GRCh38
NC_000015.9:g.45003453A>G , CM000677.1:g.45003453A>G	GRCh37
NC_000015.8:g.42790745A>G	NCBI36
NG_012920.1:g.4769A>G
NG_012920.2:g.4779A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682850.1:c.-489T>C MANE Select	ENSP00000508024.1:n.-489T>C
ENST00000558573.1:n.62T>C
XM_011521338.1:c.-489T>C	XP_011519640.1:n.-489T>C
XM_011521339.1:c.-370T>C	XP_011519641.1:n.-370T>C
XM_011521340.1:c.-311T>C	XP_011519642.1:n.-311T>C
XM_011521343.1:c.-573T>C	XP_011519645.1:n.-573T>C
XM_011521345.1:c.-544T>C	XP_011519647.1:n.-544T>C
XM_011521338.3:c.-489T>C	XP_011519640.1:n.-489T>C
XM_011521339.3:c.-370T>C	XP_011519641.1:n.-370T>C
XM_011521340.3:c.-311T>C	XP_011519642.1:n.-311T>C
XM_011521343.3:c.-573T>C	XP_011519645.1:n.-573T>C
XM_011521345.3:c.-544T>C	XP_011519647.1:n.-544T>C
NM_001387260.1:c.-76+77T>C	NP_001374189.1:n.-76+77T>C
NM_001387261.1:c.-311T>C	NP_001374190.1:n.-311T>C
NM_001387262.1:c.-579T>C	NP_001374191.1:n.-579T>C
NM_001387263.1:c.-489T>C MANE Select	NP_001374192.1:n.-489T>C