Canonical Allele Identifier: CA16605021
Gene: LAMA2 HGNC NCBI

Linked Data

dbSNP Id: rs1057524616
gnomAD v4: 6-129342472-G-T
MyVariant Identifiers: chr6:g.129663617G>T (hg19) chr6:g.129342472G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129342472G>T , CM000668.2:g.129342472G>T GRCh38
NC_000006.11:g.129663617G>T , CM000668.1:g.129663617G>T GRCh37
NC_000006.10:g.129705310G>T NCBI36
NG_008678.1:g.464332G>T , LRG_409:g.464332G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000617695.5:c.4436+5G>T ENSP00000481744.2:n.4436+5G>T
ENST00000618192.5:c.4700+5G>T ENSP00000480802.2:n.4700+5G>T
ENST00000692206.1:n.85+5G>T
ENST00000421865.3:c.4436+5G>T MANE Select ENSP00000400365.2:n.4436+5G>T
ENST00000421865.2:c.4436+5G>T ENSP00000400365.2:n.4436+5G>T
ENST00000617695.4:c.4436+5G>T ENSP00000481744.1:n.4436+5G>T
ENST00000618192.4:c.4436+5G>T ENSP00000480802.1:n.4436+5G>T
NM_000426.3:c.4436+5G>T , LRG_409t1:c.4436+5G>T NP_000417.2:n.4436+5G>T
NM_001079823.1:c.4436+5G>T NP_001073291.1:n.4436+5G>T
XM_005266981.2:c.4700+5G>T XP_005267038.1:n.4700+5G>T
XM_005266982.2:c.4700+5G>T XP_005267039.1:n.4700+5G>T
XM_011535820.1:c.4700+5G>T XP_011534122.1:n.4700+5G>T
XM_005266981.3:c.4700+5G>T XP_005267038.1:n.4700+5G>T
XM_005266982.3:c.4700+5G>T XP_005267039.1:n.4700+5G>T
XM_011535820.2:c.4700+5G>T XP_011534122.1:n.4700+5G>T
XM_017010851.2:c.4706+5G>T XP_016866340.1:n.4706+5G>T
XM_017010852.1:c.2831+5G>T XP_016866341.1:n.2831+5G>T
XM_017010853.1:c.4700+5G>T XP_016866342.1:n.4700+5G>T
NM_000426.4:c.4436+5G>T MANE Select NP_000417.3:n.4436+5G>T
NM_001079823.2:c.4436+5G>T NP_001073291.2:n.4436+5G>T
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