Canonical Allele Identifier: CA270113937

Gene: PATL2

Linked Data

• dbSNP Id: rs563993037
• gnomAD v3: 15-44711159-A-C
• gnomAD v4: 15-44711159-A-C
• MyVariant Identifiers: chr15:g.45003357A>C (hg19) ; chr15:g.44711159A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44711159A>C , CM000677.2:g.44711159A>C	GRCh38
NC_000015.9:g.45003357A>C , CM000677.1:g.45003357A>C	GRCh37
NC_000015.8:g.42790649A>C	NCBI36
NG_012920.1:g.4673A>C
NG_012920.2:g.4683A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682850.1:c.-393T>G MANE Select	ENSP00000508024.1:n.-393T>G
ENST00000558573.1:n.158T>G
XM_011521338.1:c.-393T>G	XP_011519640.1:n.-393T>G
XM_011521339.1:c.-274T>G	XP_011519641.1:n.-274T>G
XM_011521340.1:c.-215T>G	XP_011519642.1:n.-215T>G
XM_011521343.1:c.-477T>G	XP_011519645.1:n.-477T>G
XM_011521345.1:c.-448T>G	XP_011519647.1:n.-448T>G
XM_011521338.3:c.-393T>G	XP_011519640.1:n.-393T>G
XM_011521339.3:c.-274T>G	XP_011519641.1:n.-274T>G
XM_011521340.3:c.-215T>G	XP_011519642.1:n.-215T>G
XM_011521343.3:c.-477T>G	XP_011519645.1:n.-477T>G
XM_011521345.3:c.-448T>G	XP_011519647.1:n.-448T>G
NM_001387260.1:c.-76+173T>G	NP_001374189.1:n.-76+173T>G
NM_001387261.1:c.-215T>G	NP_001374190.1:n.-215T>G
NM_001387262.1:c.-483T>G	NP_001374191.1:n.-483T>G
NM_001387263.1:c.-393T>G MANE Select	NP_001374192.1:n.-393T>G