Canonical Allele Identifier: CA368219465
Gene: COL1A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94404577C>T , CM000669.2:g.94404577C>T GRCh38
NC_000007.13:g.94033889C>T , CM000669.1:g.94033889C>T GRCh37
NC_000007.12:g.93871825C>T NCBI36
NG_007405.1:g.15017C>T , LRG_2:g.15017C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.301C>T MANE Select ENSP00000297268.6:p.Pro101Ser
ENST00000297268.10:c.301C>T ENSP00000297268.6:p.Pro101Ser
ENST00000620463.1:c.295C>T ENSP00000477719.1:p.Pro99Ser
NM_000089.3:c.301C>T , LRG_2t1:c.301C>T NP_000080.2:p.Pro101Ser
NM_000089.4:c.301C>T MANE Select NP_000080.2:p.Pro101Ser