Canonical Allele Identifier: CA576321779
Gene: COL1A2 HGNC NCBI

Linked Data

dbSNP Id: rs1339951491
gnomAD v2: 7-94038600-CT-C
gnomAD v3: 7-94409288-CT-C
gnomAD v4: 7-94409288-CT-C
MyVariant Identifiers: chr7:g.94038601del (hg19) chr7:g.94409289del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94409289del , CM000669.2:g.94409289del GRCh38
NC_000007.13:g.94038601del , CM000669.1:g.94038601del GRCh37
NC_000007.12:g.93876537del NCBI36
NG_007405.1:g.19729del , LRG_2:g.19729del

Transcript Alleles

HGVS Amino-acid change
ENST00000297268.11:c.793-33del MANE Select ENSP00000297268.6:n.793-33del
ENST00000297268.10:c.793-33del ENSP00000297268.6:n.793-33del
ENST00000620463.1:c.787-33del ENSP00000477719.1:n.787-33del
NM_000089.3:c.793-33del , LRG_2t1:c.793-33del NP_000080.2:n.793-33del
NM_000089.4:c.793-33del MANE Select NP_000080.2:n.793-33del
Search 100 bp 5'
Search 100 bp 3'