Canonical Allele Identifier: CA490206619

Gene: PATL2

Linked Data

• dbSNP Id: rs1202530820
• gnomAD v4: 15-44711223-G-A
• MyVariant Identifiers: chr15:g.45003421G>A (hg19) ; chr15:g.44711223G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44711223G>A , CM000677.2:g.44711223G>A	GRCh38
NC_000015.9:g.45003421G>A , CM000677.1:g.45003421G>A	GRCh37
NC_000015.8:g.42790713G>A	NCBI36
NG_012920.1:g.4737G>A
NG_012920.2:g.4747G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682850.1:c.-457C>T MANE Select	ENSP00000508024.1:n.-457C>T
ENST00000558573.1:n.94C>T
XM_011521338.1:c.-457C>T	XP_011519640.1:n.-457C>T
XM_011521339.1:c.-338C>T	XP_011519641.1:n.-338C>T
XM_011521340.1:c.-279C>T	XP_011519642.1:n.-279C>T
XM_011521343.1:c.-541C>T	XP_011519645.1:n.-541C>T
XM_011521345.1:c.-512C>T	XP_011519647.1:n.-512C>T
XM_011521338.3:c.-457C>T	XP_011519640.1:n.-457C>T
XM_011521339.3:c.-338C>T	XP_011519641.1:n.-338C>T
XM_011521340.3:c.-279C>T	XP_011519642.1:n.-279C>T
XM_011521343.3:c.-541C>T	XP_011519645.1:n.-541C>T
XM_011521345.3:c.-512C>T	XP_011519647.1:n.-512C>T
NM_001387260.1:c.-76+109C>T	NP_001374189.1:n.-76+109C>T
NM_001387261.1:c.-279C>T	NP_001374190.1:n.-279C>T
NM_001387262.1:c.-547C>T	NP_001374191.1:n.-547C>T
NM_001387263.1:c.-457C>T MANE Select	NP_001374192.1:n.-457C>T