Canonical Allele Identifier: CA14667930
Gene: CNN2 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1038446C>T , CM000681.2:g.1038446C>T GRCh38
NC_000019.9:g.1038445C>T , CM000681.1:g.1038445C>T GRCh37
NC_000019.8:g.989445C>T NCBI36
NG_046909.1:g.3344C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263097.9:c.*546C>T MANE Select ENSP00000263097.2:n.*546C>T
ENST00000263097.8:c.*546C>T ENSP00000263097.2:n.*546C>T
ENST00000348419.7:c.*546C>T ENSP00000340129.2:n.*546C>T
ENST00000562958.6:c.*546C>T ENSP00000456436.1:n.*546C>T
ENST00000564572.1:n.1648C>T
ENST00000565096.6:c.*546C>T ENSP00000457968.1:n.*546C>T
NM_001303499.1:c.*546C>T NP_001290428.1:n.*546C>T
NM_001303501.1:c.*546C>T NP_001290430.1:n.*546C>T
NM_004368.3:c.*546C>T NP_004359.1:n.*546C>T
NM_201277.2:c.*546C>T NP_958434.1:n.*546C>T
NM_004368.4:c.*546C>T MANE Select NP_004359.1:n.*546C>T
NM_001303499.2:c.*546C>T NP_001290428.1:n.*546C>T
NM_001303501.2:c.*546C>T NP_001290430.1:n.*546C>T
NM_201277.3:c.*546C>T NP_958434.1:n.*546C>T