Canonical Allele Identifier: CA570205593

Gene: LAMA2

Linked Data

• dbSNP Id: rs1300717122
• gnomAD v2: 6-129618917-A-AG
• gnomAD v4: 6-129297772-A-AG
• MyVariant Identifiers: chr6:g.129618917_129618918insG (hg19) ; chr6:g.129297772_129297773insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129297773dup , CM000668.2:g.129297773dup	GRCh38
NC_000006.11:g.129618918dup , CM000668.1:g.129618918dup	GRCh37
NC_000006.10:g.129660611dup	NCBI36
NG_008678.1:g.419633dup , LRG_409:g.419633dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.2945dup	ENSP00000481744.2:p.Ser982ArgfsTer16
ENST00000618192.5:c.3209dup	ENSP00000480802.2:p.Ser1070ArgfsTer16
ENST00000421865.3:c.2945dup MANE Select	ENSP00000400365.2:p.Ser982ArgfsTer16
ENST00000645154.1:c.460dup
ENST00000421865.2:c.2945dup	ENSP00000400365.2:p.Ser982ArgfsTer16
ENST00000617695.4:c.2945dup	ENSP00000481744.1:p.Ser982ArgfsTer16
ENST00000618192.4:c.2945dup	ENSP00000480802.1:p.Ser982ArgfsTer16
NM_000426.3:c.2945dup , LRG_409t1:c.2945dup	NP_000417.2:p.Ser982ArgfsTer16
NM_001079823.1:c.2945dup	NP_001073291.1:p.Ser982ArgfsTer16
XM_005266981.2:c.3209dup	XP_005267038.1:p.Ser1070ArgfsTer16
XM_005266982.2:c.3209dup	XP_005267039.1:p.Ser1070ArgfsTer16
XM_011535820.1:c.3209dup	XP_011534122.1:p.Ser1070ArgfsTer16
XM_005266981.3:c.3209dup	XP_005267038.1:p.Ser1070ArgfsTer16
XM_005266982.3:c.3209dup	XP_005267039.1:p.Ser1070ArgfsTer16
XM_011535820.2:c.3209dup	XP_011534122.1:p.Ser1070ArgfsTer16
XM_017010851.2:c.3215dup	XP_016866340.1:p.Ser1072ArgfsTer16
XM_017010852.1:c.1340dup	XP_016866341.1:p.Ser447ArgfsTer16
XM_017010853.1:c.3209dup	XP_016866342.1:p.Ser1070ArgfsTer16
NM_000426.4:c.2945dup MANE Select	NP_000417.3:p.Ser982ArgfsTer16
NM_001079823.2:c.2945dup	NP_001073291.2:p.Ser982ArgfsTer16