Canonical Allele Identifier: CA3994672

Gene: LAMA2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129486550T>C , CM000668.2:g.129486550T>C	GRCh38
NC_000006.11:g.129807695T>C , CM000668.1:g.129807695T>C	GRCh37
NC_000006.10:g.129849388T>C	NCBI36
NG_008678.1:g.608410T>C , LRG_409:g.608410T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000426.4:c.7826T>C MANE Select	NP_000417.3:p.Ile2609Thr
ENST00000421865.3:c.7826T>C MANE Select	ENSP00000400365.2:p.Ile2609Thr
NM_000426.3:c.7826T>C , LRG_409t1:c.7826T>C	NP_000417.2:p.Ile2609Thr
NM_001079823.1:c.7814T>C	NP_001073291.1:p.Ile2605Thr
NM_001079823.2:c.7814T>C	NP_001073291.2:p.Ile2605Thr
ENST00000421865.2:c.7826T>C	ENSP00000400365.2:p.Ile2609Thr
ENST00000617695.4:c.7814T>C	ENSP00000481744.1:p.Ile2605Thr
ENST00000617695.5:c.7814T>C	ENSP00000481744.2:p.Ile2605Thr
ENST00000618192.4:c.7823T>C	ENSP00000480802.1:p.Ile2608Thr
ENST00000618192.5:c.8090T>C	ENSP00000480802.2:p.Ile2697Thr
ENST00000688198.1:n.804T>C
XM_005266981.2:c.8090T>C	XP_005267038.1:p.Ile2697Thr
XM_005266981.3:c.8090T>C	XP_005267038.1:p.Ile2697Thr
XM_005266982.2:c.8078T>C	XP_005267039.1:p.Ile2693Thr
XM_005266982.3:c.8078T>C	XP_005267039.1:p.Ile2693Thr
XM_011535820.1:c.8084T>C	XP_011534122.1:p.Ile2695Thr
XM_011535820.2:c.8084T>C	XP_011534122.1:p.Ile2695Thr
XM_017010851.2:c.8096T>C	XP_016866340.1:p.Ile2699Thr
XM_017010852.1:c.6221T>C	XP_016866341.1:p.Ile2074Thr