Canonical Allele Identifier: CA679676444

Gene: TPCN2 SMIM38

Linked Data

• dbSNP Id: rs1363022410
• MyVariant Identifiers: chr11:g.68906556C>T (hg19) ; chr11:g.69139088C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.69139088C>T , CM000673.2:g.69139088C>T	GRCh38
NC_000011.9:g.68906556C>T , CM000673.1:g.68906556C>T	GRCh37
NC_000011.8:g.68663132C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000692585.1:c.1627+3556C>T	ENSP00000509200.1:n.1627+3556C>T
ENST00000637084.1:c.1627+3556C>T	ENSP00000490615.1:n.1627+3556C>T
XM_006718453.2:c.*36+3556C>T (TPCN2)	XP_006718516.1:n.*36+3556C>T
XR_001748283.1:n.778+3556C>T (SMIM38)
XR_001748285.1:n.778+3556C>T (SMIM38)
XR_001748286.1:n.778+3556C>T (SMIM38)
XR_001748287.1:n.778+3556C>T (SMIM38)