Canonical Allele Identifier: CA2392504251

Gene: COL6A2

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46121694_46121695delinsTG , CM000683.2:g.46121694_46121695delinsTG	GRCh38
NC_000021.8:g.47541608_47541609delinsTG , CM000683.1:g.47541608_47541609delinsTG	GRCh37
NC_000021.7:g.46366036_46366037delinsTG	NCBI36
NG_008675.1:g.28576_28577delinsTG , LRG_476:g.28576_28577delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.1521+76_1521+77delinsTG MANE Plus Clinical	ENSP00000380870.1:n.1521+76_1521+77delinsTG
ENST00000300527.9:c.1521+76_1521+77delinsTG MANE Select	ENSP00000300527.4:n.1521+76_1521+77delinsTG
ENST00000409416.6:c.1521+76_1521+77delinsTG	ENSP00000387115.1:n.1521+76_1521+77delinsTG
ENST00000300527.8:c.1521+76_1521+77delinsTG	ENSP00000300527.4:n.1521+76_1521+77delinsTG
ENST00000310645.9:c.1521+76_1521+77delinsTG	ENSP00000312529.5:n.1521+76_1521+77delinsTG
ENST00000397763.5:c.1521+76_1521+77delinsTG	ENSP00000380870.1:n.1521+76_1521+77delinsTG
ENST00000409416.5:c.1521+76_1521+77delinsTG	ENSP00000387115.1:n.1521+76_1521+77delinsTG
ENST00000413758.1:c.144+76_144+77delinsTG	ENSP00000395751.1:n.144+76_144+77delinsTG
NM_001849.3:c.1521+76_1521+77delinsTG , LRG_476t1:c.1521+76_1521+77delinsTG	NP_001840.3:n.1521+76_1521+77delinsTG
NM_058174.2:c.1521+76_1521+77delinsTG	NP_478054.2:n.1521+76_1521+77delinsTG
NM_058175.2:c.1521+76_1521+77delinsTG	NP_478055.2:n.1521+76_1521+77delinsTG
XM_011529451.1:c.1521+76_1521+77delinsTG	XP_011527753.1:n.1521+76_1521+77delinsTG
XM_011529452.1:c.1521+76_1521+77delinsTG	XP_011527754.1:n.1521+76_1521+77delinsTG
XR_937438.1:n.1644+76_1644+77delinsTG
XR_937439.1:n.1644+76_1644+77delinsTG
XR_937438.2:n.1651+76_1651+77delinsTG
XR_937439.2:n.1651+76_1651+77delinsTG
NM_001849.4:c.1521+76_1521+77delinsTG MANE Select	NP_001840.3:n.1521+76_1521+77delinsTG
NM_058174.3:c.1521+76_1521+77delinsTG MANE Plus Clinical	NP_478054.2:n.1521+76_1521+77delinsTG
NM_058175.3:c.1521+76_1521+77delinsTG	NP_478055.2:n.1521+76_1521+77delinsTG