Canonical Allele Identifier: CA2600571250

Gene: PTCSC2

Linked Data

• gnomAD v3: 9-97851872-G-C
• gnomAD v4: 9-97851872-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97851872G>C , CM000671.2:g.97851872G>C	GRCh38
NC_000009.11:g.100614154G>C , CM000671.1:g.100614154G>C	GRCh37
NC_000009.10:g.99653975G>C	NCBI36
NG_011979.1:g.3618G>C

Transcript Alleles

HGVS	Amino-acid Change
XR_930158.1:n.218+1004C>G
XR_930159.1:n.218+1004C>G
XR_930160.1:n.218+1004C>G
XR_930161.1:n.218+1004C>G
NR_147055.1:n.165+1044C>G