Canonical Allele Identifier: CA679676462

Gene: TPCN2 SMIM38

Linked Data

• dbSNP Id: rs1396633931
• gnomAD v3: 11-69139117-G-T
• gnomAD v4: 11-69139117-G-T
• MyVariant Identifiers: chr11:g.68906585G>T (hg19) ; chr11:g.69139117G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.69139117G>T , CM000673.2:g.69139117G>T	GRCh38
NC_000011.9:g.68906585G>T , CM000673.1:g.68906585G>T	GRCh37
NC_000011.8:g.68663161G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000692585.1:c.1627+3585G>T	ENSP00000509200.1:n.1627+3585G>T
ENST00000637084.1:c.1627+3585G>T	ENSP00000490615.1:n.1627+3585G>T
XM_006718453.2:c.*36+3585G>T (TPCN2)	XP_006718516.1:n.*36+3585G>T
XR_001748283.1:n.778+3585G>T (SMIM38)
XR_001748285.1:n.778+3585G>T (SMIM38)
XR_001748286.1:n.778+3585G>T (SMIM38)
XR_001748287.1:n.778+3585G>T (SMIM38)