Canonical Allele Identifier: CA490206882

Gene: PATL2

Linked Data

• dbSNP Id: rs2086856701
• gnomAD v3: 15-44711313-G-T
• gnomAD v4: 15-44711313-G-T
• MyVariant Identifiers: chr15:g.45003511G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44711313G>T , CM000677.2:g.44711313G>T	GRCh38
NC_000015.9:g.45003511G>T , CM000677.1:g.45003511G>T	GRCh37
NC_000015.8:g.42790803G>T	NCBI36
NG_012920.1:g.4827G>T
NG_012920.2:g.4837G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682850.1:c.-547C>A MANE Select	ENSP00000508024.1:n.-547C>A
ENST00000558573.1:n.4C>A
XM_011521338.1:c.-547C>A	XP_011519640.1:n.-547C>A
XM_011521339.1:c.-428C>A	XP_011519641.1:n.-428C>A
XM_011521340.1:c.-369C>A	XP_011519642.1:n.-369C>A
XM_011521343.1:c.-631C>A	XP_011519645.1:n.-631C>A
XM_011521345.1:c.-602C>A	XP_011519647.1:n.-602C>A
XM_011521338.3:c.-547C>A	XP_011519640.1:n.-547C>A
XM_011521339.3:c.-428C>A	XP_011519641.1:n.-428C>A
XM_011521340.3:c.-369C>A	XP_011519642.1:n.-369C>A
XM_011521343.3:c.-631C>A	XP_011519645.1:n.-631C>A
XM_011521345.3:c.-602C>A	XP_011519647.1:n.-602C>A
NM_001387260.1:c.-76+19C>A	NP_001374189.1:n.-76+19C>A
NM_001387261.1:c.-369C>A	NP_001374190.1:n.-369C>A
NM_001387262.1:c.-637C>A	NP_001374191.1:n.-637C>A
NM_001387263.1:c.-547C>A MANE Select	NP_001374192.1:n.-547C>A