Canonical Allele Identifier: CA62594831

Gene: COL5A2

Linked Data

• dbSNP Id: rs11277110
• MyVariant Identifiers: chr2:g.189915006_189915007insTCCGGGA (hg19) ; chr2:g.189050280_189050281insTCCGGGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189050283_189050289dup , CM000664.2:g.189050283_189050289dup	GRCh38
NC_000002.11:g.189915009_189915015dup , CM000664.1:g.189915009_189915015dup	GRCh37
NC_000002.10:g.189623254_189623260dup	NCBI36
NG_011799.1:g.134593_134599dup
NG_011799.2:g.134593_134599dup
NG_011799.3:g.180015_180021dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.3039+282_3039+288dup MANE Select	ENSP00000364000.3:n.3039+282_3039+288dup
ENST00000374866.7:c.3039+282_3039+288dup	ENSP00000364000.3:n.3039+282_3039+288dup
ENST00000618828.1:c.1878+282_1878+288dup	ENSP00000482184.1:n.1878+282_1878+288dup
NM_000393.3:c.3039+282_3039+288dup	NP_000384.2:n.3039+282_3039+288dup
XM_011510573.1:c.2901+282_2901+288dup	XP_011508875.1:n.2901+282_2901+288dup
NM_000393.4:c.3039+282_3039+288dup	NP_000384.2:n.3039+282_3039+288dup
XM_011510573.3:c.2901+282_2901+288dup	XP_011508875.1:n.2901+282_2901+288dup
NM_000393.5:c.3039+282_3039+288dup MANE Select	NP_000384.2:n.3039+282_3039+288dup