Canonical Allele Identifier: CA270113930

Gene: PATL2

Linked Data

• dbSNP Id: rs944553684
• gnomAD v3: 15-44711132-G-C
• gnomAD v4: 15-44711132-G-C
• MyVariant Identifiers: chr15:g.45003330G>C (hg19) ; chr15:g.44711132G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44711132G>C , CM000677.2:g.44711132G>C	GRCh38
NC_000015.9:g.45003330G>C , CM000677.1:g.45003330G>C	GRCh37
NC_000015.8:g.42790622G>C	NCBI36
NG_012920.1:g.4646G>C
NG_012920.2:g.4656G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682850.1:c.-366C>G MANE Select	ENSP00000508024.1:n.-366C>G
ENST00000558573.1:n.185C>G
XM_011521338.1:c.-366C>G	XP_011519640.1:n.-366C>G
XM_011521339.1:c.-247C>G	XP_011519641.1:n.-247C>G
XM_011521340.1:c.-188C>G	XP_011519642.1:n.-188C>G
XM_011521343.1:c.-450C>G	XP_011519645.1:n.-450C>G
XM_011521345.1:c.-421C>G	XP_011519647.1:n.-421C>G
XM_011521338.3:c.-366C>G	XP_011519640.1:n.-366C>G
XM_011521339.3:c.-247C>G	XP_011519641.1:n.-247C>G
XM_011521340.3:c.-188C>G	XP_011519642.1:n.-188C>G
XM_011521343.3:c.-450C>G	XP_011519645.1:n.-450C>G
XM_011521345.3:c.-421C>G	XP_011519647.1:n.-421C>G
NM_001387260.1:c.-76+200C>G	NP_001374189.1:n.-76+200C>G
NM_001387261.1:c.-188C>G	NP_001374190.1:n.-188C>G
NM_001387262.1:c.-456C>G	NP_001374191.1:n.-456C>G
NM_001387263.1:c.-366C>G MANE Select	NP_001374192.1:n.-366C>G