Canonical Allele Identifier: CA365619195

Gene: LAMA2

Linked Data

• MyVariant Identifiers: chr6:g.129781394C>T (hg19) ; chr6:g.129460249C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129460249C>T , CM000668.2:g.129460249C>T	GRCh38
NC_000006.11:g.129781394C>T , CM000668.1:g.129781394C>T	GRCh37
NC_000006.10:g.129823087C>T	NCBI36
NG_008678.1:g.582109C>T , LRG_409:g.582109C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.6917C>T	ENSP00000481744.2:p.Thr2306Ile
ENST00000618192.5:c.7181C>T	ENSP00000480802.2:p.Thr2394Ile
ENST00000684985.1:n.548C>T
ENST00000688150.1:n.256C>T
ENST00000421865.3:c.6917C>T MANE Select	ENSP00000400365.2:p.Thr2306Ile
ENST00000421865.2:c.6917C>T	ENSP00000400365.2:p.Thr2306Ile
ENST00000617695.4:c.6917C>T	ENSP00000481744.1:p.Thr2306Ile
ENST00000618192.4:c.6914C>T	ENSP00000480802.1:p.Thr2305Ile
NM_000426.3:c.6917C>T , LRG_409t1:c.6917C>T	NP_000417.2:p.Thr2306Ile
NM_001079823.1:c.6917C>T	NP_001073291.1:p.Thr2306Ile
XM_005266981.2:c.7181C>T	XP_005267038.1:p.Thr2394Ile
XM_005266982.2:c.7181C>T	XP_005267039.1:p.Thr2394Ile
XM_011535820.1:c.7175C>T	XP_011534122.1:p.Thr2392Ile
XM_005266981.3:c.7181C>T	XP_005267038.1:p.Thr2394Ile
XM_005266982.3:c.7181C>T	XP_005267039.1:p.Thr2394Ile
XM_011535820.2:c.7175C>T	XP_011534122.1:p.Thr2392Ile
XM_017010851.2:c.7187C>T	XP_016866340.1:p.Thr2396Ile
XM_017010852.1:c.5312C>T	XP_016866341.1:p.Thr1771Ile
NM_000426.4:c.6917C>T MANE Select	NP_000417.3:p.Thr2306Ile
NM_001079823.2:c.6917C>T	NP_001073291.2:p.Thr2306Ile