Canonical Allele Identifier: CA14143690

Gene: PATL2

Linked Data

• dbSNP Id: rs2255235
• gnomAD v2: 15-45003364-T-G
• gnomAD v3: 15-44711166-T-G
• gnomAD v4: 15-44711166-T-G
• MyVariant Identifiers: chr15:g.45003364T>G (hg19) ; chr15:g.44711166T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44711166T>G , CM000677.2:g.44711166T>G	GRCh38
NC_000015.9:g.45003364T>G , CM000677.1:g.45003364T>G	GRCh37
NC_000015.8:g.42790656T>G	NCBI36
NG_012920.1:g.4680T>G
NG_012920.2:g.4690T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682850.1:c.-400A>C MANE Select	ENSP00000508024.1:n.-400A>C
ENST00000558573.1:n.151A>C
XM_011521338.1:c.-400A>C	XP_011519640.1:n.-400A>C
XM_011521339.1:c.-281A>C	XP_011519641.1:n.-281A>C
XM_011521340.1:c.-222A>C	XP_011519642.1:n.-222A>C
XM_011521343.1:c.-484A>C	XP_011519645.1:n.-484A>C
XM_011521345.1:c.-455A>C	XP_011519647.1:n.-455A>C
XM_011521338.3:c.-400A>C	XP_011519640.1:n.-400A>C
XM_011521339.3:c.-281A>C	XP_011519641.1:n.-281A>C
XM_011521340.3:c.-222A>C	XP_011519642.1:n.-222A>C
XM_011521343.3:c.-484A>C	XP_011519645.1:n.-484A>C
XM_011521345.3:c.-455A>C	XP_011519647.1:n.-455A>C
NM_001387260.1:c.-76+166A>C	NP_001374189.1:n.-76+166A>C
NM_001387261.1:c.-222A>C	NP_001374190.1:n.-222A>C
NM_001387262.1:c.-490A>C	NP_001374191.1:n.-490A>C
NM_001387263.1:c.-400A>C MANE Select	NP_001374192.1:n.-400A>C