Canonical Allele Identifier: CA490206417

Gene: PATL2

Linked Data

• gnomAD v4: 15-44711157-T-G
• MyVariant Identifiers: chr15:g.45003355T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44711157T>G , CM000677.2:g.44711157T>G	GRCh38
NC_000015.9:g.45003355T>G , CM000677.1:g.45003355T>G	GRCh37
NC_000015.8:g.42790647T>G	NCBI36
NG_012920.1:g.4671T>G
NG_012920.2:g.4681T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682850.1:c.-391A>C MANE Select	ENSP00000508024.1:n.-391A>C
ENST00000558573.1:n.160A>C
XM_011521338.1:c.-391A>C	XP_011519640.1:n.-391A>C
XM_011521339.1:c.-272A>C	XP_011519641.1:n.-272A>C
XM_011521340.1:c.-213A>C	XP_011519642.1:n.-213A>C
XM_011521343.1:c.-475A>C	XP_011519645.1:n.-475A>C
XM_011521345.1:c.-446A>C	XP_011519647.1:n.-446A>C
XM_011521338.3:c.-391A>C	XP_011519640.1:n.-391A>C
XM_011521339.3:c.-272A>C	XP_011519641.1:n.-272A>C
XM_011521340.3:c.-213A>C	XP_011519642.1:n.-213A>C
XM_011521343.3:c.-475A>C	XP_011519645.1:n.-475A>C
XM_011521345.3:c.-446A>C	XP_011519647.1:n.-446A>C
NM_001387260.1:c.-76+175A>C	NP_001374189.1:n.-76+175A>C
NM_001387261.1:c.-213A>C	NP_001374190.1:n.-213A>C
NM_001387262.1:c.-481A>C	NP_001374191.1:n.-481A>C
NM_001387263.1:c.-391A>C MANE Select	NP_001374192.1:n.-391A>C