Canonical Allele Identifier: CA270113974

Gene: PATL2

Linked Data

• dbSNP Id: rs566141842
• gnomAD v2: 15-45003481-G-T
• gnomAD v3: 15-44711283-G-T
• gnomAD v4: 15-44711283-G-T
• MyVariant Identifiers: chr15:g.45003481G>T (hg19) ; chr15:g.44711283G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44711283G>T , CM000677.2:g.44711283G>T	GRCh38
NC_000015.9:g.45003481G>T , CM000677.1:g.45003481G>T	GRCh37
NC_000015.8:g.42790773G>T	NCBI36
NG_012920.1:g.4797G>T
NG_012920.2:g.4807G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682850.1:c.-517C>A MANE Select	ENSP00000508024.1:n.-517C>A
ENST00000558573.1:n.34C>A
XM_011521338.1:c.-517C>A	XP_011519640.1:n.-517C>A
XM_011521339.1:c.-398C>A	XP_011519641.1:n.-398C>A
XM_011521340.1:c.-339C>A	XP_011519642.1:n.-339C>A
XM_011521343.1:c.-601C>A	XP_011519645.1:n.-601C>A
XM_011521345.1:c.-572C>A	XP_011519647.1:n.-572C>A
XM_011521338.3:c.-517C>A	XP_011519640.1:n.-517C>A
XM_011521339.3:c.-398C>A	XP_011519641.1:n.-398C>A
XM_011521340.3:c.-339C>A	XP_011519642.1:n.-339C>A
XM_011521343.3:c.-601C>A	XP_011519645.1:n.-601C>A
XM_011521345.3:c.-572C>A	XP_011519647.1:n.-572C>A
NM_001387260.1:c.-76+49C>A	NP_001374189.1:n.-76+49C>A
NM_001387261.1:c.-339C>A	NP_001374190.1:n.-339C>A
NM_001387262.1:c.-607C>A	NP_001374191.1:n.-607C>A
NM_001387263.1:c.-517C>A MANE Select	NP_001374192.1:n.-517C>A