Canonical Allele Identifier: CA490206891

Gene: PATL2

Linked Data

• gnomAD v4: 15-44711316-C-A
• MyVariant Identifiers: chr15:g.45003514C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44711316C>A , CM000677.2:g.44711316C>A	GRCh38
NC_000015.9:g.45003514C>A , CM000677.1:g.45003514C>A	GRCh37
NC_000015.8:g.42790806C>A	NCBI36
NG_012920.1:g.4830C>A
NG_012920.2:g.4840C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682850.1:c.-550G>T MANE Select	ENSP00000508024.1:n.-550G>T
ENST00000558573.1:n.1G>T
XM_011521338.1:c.-550G>T	XP_011519640.1:n.-550G>T
XM_011521339.1:c.-431G>T	XP_011519641.1:n.-431G>T
XM_011521340.1:c.-372G>T	XP_011519642.1:n.-372G>T
XM_011521343.1:c.-634G>T	XP_011519645.1:n.-634G>T
XM_011521345.1:c.-605G>T	XP_011519647.1:n.-605G>T
XM_011521338.3:c.-550G>T	XP_011519640.1:n.-550G>T
XM_011521339.3:c.-431G>T	XP_011519641.1:n.-431G>T
XM_011521340.3:c.-372G>T	XP_011519642.1:n.-372G>T
XM_011521343.3:c.-634G>T	XP_011519645.1:n.-634G>T
XM_011521345.3:c.-605G>T	XP_011519647.1:n.-605G>T
NM_001387260.1:c.-76+16G>T	NP_001374189.1:n.-76+16G>T
NM_001387261.1:c.-372G>T	NP_001374190.1:n.-372G>T
NM_001387262.1:c.-640G>T	NP_001374191.1:n.-640G>T
NM_001387263.1:c.-550G>T MANE Select	NP_001374192.1:n.-550G>T