Canonical Allele Identifier: CA410530519

Gene: COL6A2

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46119852T>C , CM000683.2:g.46119852T>C	GRCh38
NC_000021.8:g.47539766T>C , CM000683.1:g.47539766T>C	GRCh37
NC_000021.7:g.46364194T>C	NCBI36
NG_008675.1:g.26734T>C , LRG_476:g.26734T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001849.4:c.1332+2T>C MANE Select	NP_001840.3:n.1332+2T>C
ENST00000300527.9:c.1332+2T>C MANE Select	ENSP00000300527.4:n.1332+2T>C
NM_058174.3:c.1332+2T>C MANE Plus Clinical	NP_478054.2:n.1332+2T>C
ENST00000397763.6:c.1332+2T>C MANE Plus Clinical	ENSP00000380870.1:n.1332+2T>C
NM_001849.3:c.1332+2T>C , LRG_476t1:c.1332+2T>C	NP_001840.3:n.1332+2T>C
NM_058174.2:c.1332+2T>C	NP_478054.2:n.1332+2T>C
NM_058175.2:c.1332+2T>C	NP_478055.2:n.1332+2T>C
NM_058175.3:c.1332+2T>C	NP_478055.2:n.1332+2T>C
ENST00000300527.8:c.1332+2T>C	ENSP00000300527.4:n.1332+2T>C
ENST00000310645.9:c.1332+2T>C	ENSP00000312529.5:n.1332+2T>C
ENST00000397763.5:c.1332+2T>C	ENSP00000380870.1:n.1332+2T>C
ENST00000409416.5:c.1332+2T>C	ENSP00000387115.1:n.1332+2T>C
ENST00000409416.6:c.1332+2T>C	ENSP00000387115.1:n.1332+2T>C
XM_011529451.1:c.1332+2T>C	XP_011527753.1:n.1332+2T>C
XM_011529452.1:c.1332+2T>C	XP_011527754.1:n.1332+2T>C
XR_937438.1:n.1455+2T>C
XR_937438.2:n.1462+2T>C
XR_937439.1:n.1455+2T>C
XR_937439.2:n.1462+2T>C