Canonical Allele Identifier: CA410538714
Gene: COL6A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46125539T>C , CM000683.2:g.46125539T>C GRCh38
NC_000021.8:g.47545453T>C , CM000683.1:g.47545453T>C GRCh37
NC_000021.7:g.46369881T>C NCBI36
NG_008675.1:g.32421T>C , LRG_476:g.32421T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000397763.6:c.1891T>C MANE Plus Clinical ENSP00000380870.1:p.Phe631Leu
ENST00000300527.9:c.1891T>C MANE Select ENSP00000300527.4:p.Phe631Leu
ENST00000409416.6:c.1891T>C ENSP00000387115.1:p.Phe631Leu
ENST00000300527.8:c.1891T>C ENSP00000300527.4:p.Phe631Leu
ENST00000310645.9:c.1891T>C ENSP00000312529.5:p.Phe631Leu
ENST00000397763.5:c.1891T>C ENSP00000380870.1:p.Phe631Leu
ENST00000409416.5:c.1891T>C ENSP00000387115.1:p.Phe631Leu
ENST00000413758.1:c.562T>C ENSP00000395751.1:p.Phe188Leu
NM_001849.3:c.1891T>C , LRG_476t1:c.1891T>C NP_001840.3:p.Phe631Leu
NM_058174.2:c.1891T>C NP_478054.2:p.Phe631Leu
NM_058175.2:c.1891T>C NP_478055.2:p.Phe631Leu
XM_011529451.1:c.1891T>C XP_011527753.1:p.Phe631Leu
XM_011529452.1:c.1891T>C XP_011527754.1:p.Phe631Leu
XR_937438.1:n.1968T>C
XR_937439.1:n.1968T>C
XR_937438.2:n.1975T>C
XR_937439.2:n.1975T>C
NM_001849.4:c.1891T>C MANE Select NP_001840.3:p.Phe631Leu
NM_058174.3:c.1891T>C MANE Plus Clinical NP_478054.2:p.Phe631Leu
NM_058175.3:c.1891T>C NP_478055.2:p.Phe631Leu