Canonical Allele Identifier: CA1092889238

Gene: PDSS2

Linked Data

• dbSNP Id: rs1782147403
• gnomAD v3: 6-107458925-A-G
• gnomAD v4: 6-107458925-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.107458925A>G , CM000668.2:g.107458925A>G	GRCh38
NC_000006.11:g.107780129A>G , CM000668.1:g.107780129A>G	GRCh37
NC_000006.10:g.107886822A>G	NCBI36
NG_013033.1:g.5651T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000369037.9:c.296+65T>C MANE Select	ENSP00000358033.4:n.296+65T>C
ENST00000369031.4:c.296+65T>C	ENSP00000358027.4:n.296+65T>C
ENST00000369037.8:c.296+65T>C	ENSP00000358033.4:n.296+65T>C
NM_020381.3:c.296+65T>C	NP_065114.3:n.296+65T>C
XM_011535956.1:c.296+65T>C	XP_011534258.1:n.296+65T>C
XM_011535957.1:c.296+65T>C	XP_011534259.1:n.296+65T>C
XM_011535958.1:c.296+65T>C	XP_011534260.1:n.296+65T>C
XM_011535959.1:c.296+65T>C	XP_011534261.1:n.296+65T>C
XM_011535960.1:c.-113+443T>C	XP_011534262.1:n.-113+443T>C
XM_011535961.1:c.296+65T>C	XP_011534263.1:n.296+65T>C
XM_011535962.1:c.-113+443T>C	XP_011534264.1:n.-113+443T>C
XM_011535963.1:c.296+65T>C	XP_011534265.1:n.296+65T>C
XM_011535956.3:c.296+65T>C	XP_011534258.1:n.296+65T>C
XM_011535957.3:c.296+65T>C	XP_011534259.1:n.296+65T>C
XM_011535958.3:c.296+65T>C	XP_011534260.1:n.296+65T>C
XM_011535959.3:c.296+65T>C	XP_011534261.1:n.296+65T>C
XM_011535960.3:c.-113+443T>C	XP_011534262.1:n.-113+443T>C
XM_011535961.3:c.296+65T>C	XP_011534263.1:n.296+65T>C
XM_011535962.2:c.-113+443T>C	XP_011534264.1:n.-113+443T>C
XM_011535963.3:c.296+65T>C	XP_011534265.1:n.296+65T>C
XM_017011082.2:c.296+65T>C	XP_016866571.1:n.296+65T>C
NM_020381.4:c.296+65T>C MANE Select	NP_065114.3:n.296+65T>C